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class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">X-linked severe combined immunodeficiency</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">X-SCID</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:X-linked_recessive_(2).svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/X-linked_recessive_%282%29.svg/220px-X-linked_recessive_%282%29.svg.png" decoding="async" width="220" height="185" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/7/73/X-linked_recessive_%282%29.svg/330px-X-linked_recessive_%282%29.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/7/73/X-linked_recessive_%282%29.svg/440px-X-linked_recessive_%282%29.svg.png 2x" data-file-width="1525" data-file-height="1283" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">X-linked recessive is the inheritance pattern of this disorder</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Hematology" title="Hematology">Hematology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1423538?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>X-linked severe combined immunodeficiency</b> (<b>X-SCID</b>) is an <a href="/wiki/Immunodeficiency" title="Immunodeficiency">immunodeficiency</a> disorder in which the body produces very few <a href="/wiki/T_cell" title="T cell">T cells</a> and <a href="/wiki/NK_cell" class="mw-redirect" title="NK cell">NK cells</a>. </p><p>In the absence of <a href="/wiki/T_helper_cell" title="T helper cell">T cell help</a>, <a href="/wiki/B_cell" title="B cell">B cells</a> become defective.<sup id="cite_ref-Fisher_1-0" class="reference"><a href="#cite_note-Fisher-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> It is an <a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive inheritance</a> trait, stemming from a <a href="/wiki/Mutation" title="Mutation">mutated</a> (abnormal) version of the <i>IL2RG</i> gene located on the <a href="/wiki/X-chromosome" class="mw-redirect" title="X-chromosome">X-chromosome</a>. This <a href="/wiki/Gene" title="Gene">gene</a> encodes the <a href="/wiki/IL-2RG" class="mw-redirect" title="IL-2RG">interleukin receptor common gamma chain</a> <a href="/wiki/Protein" title="Protein">protein</a>, which is a <a href="/wiki/Cytokine_receptor" title="Cytokine receptor">cytokine receptor</a> sub-unit that is part of the <a href="/wiki/Receptor_(biochemistry)" title="Receptor (biochemistry)">receptors</a> for IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21.<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Symptoms_and_signs">Symptoms and signs</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=1" title="Edit section: Symptoms and signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>People with X-SCID often have infections very early in life, before three months of age. This occurs due to the decreased amount of <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">immunoglobulin G</a> (IgG) levels in the infant during the three-month stage.<sup id="cite_ref-Vickers_2009_29–47_4-0" class="reference"><a href="#cite_note-Vickers_2009_29–47-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> This is followed by viral infections such as <a href="/wiki/Pneumonitis" title="Pneumonitis">pneumonitis</a>, an inflammation of the lung which produces common symptoms such as cough, fever, chills, and shortness of breath.<sup id="cite_ref-molecular_basis_to_clinical_management_5-0" class="reference"><a href="#cite_note-molecular_basis_to_clinical_management-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> A telltale sign of X-SCID is <a href="/wiki/Candidiasis" title="Candidiasis">candidiasis</a>, a type of fungal infection caused by <i><a href="/wiki/Candida_albicans" title="Candida albicans">Candida albicans</a></i>.<sup id="cite_ref-Diagnosis_6-0" class="reference"><a href="#cite_note-Diagnosis-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Candidiasis involves moist areas of the body such as skin, the mouth, respiratory tract, and vagina; symptoms of oral candidiasis include difficulty in swallowing, pain on swallowing and oral lesions. Recurrent <a href="/wiki/Eczema" class="mw-redirect" title="Eczema">eczema</a>-like rashes are also a common symptom. Other common infections experienced by individuals with X-SCID include <a href="/wiki/Diarrhea" title="Diarrhea">diarrhea</a>, <a href="/wiki/Sepsis" title="Sepsis">sepsis</a>, and <a href="/wiki/Otitis_media" title="Otitis media">otitis media</a>.<sup id="cite_ref-Vickers_2009_29–47_4-1" class="reference"><a href="#cite_note-Vickers_2009_29–47-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Some other common symptoms that are experienced by X-SCID patients include <a href="/wiki/Failure_to_thrive" title="Failure to thrive">failure to thrive</a>, gut problems, skin problems, and <a href="/wiki/Muscle_hypotonia" class="mw-redirect" title="Muscle hypotonia">muscle hypotonia</a>.<sup id="cite_ref-Vickers_2009_29–47_4-2" class="reference"><a href="#cite_note-Vickers_2009_29–47-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>In some patients symptoms may not appear for the first six months after birth.<sup id="cite_ref-Diagnosis_6-1" class="reference"><a href="#cite_note-Diagnosis-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> This is likely due to passive immunity received from the mother in order to protect the baby from infections until the newborn is able to make their own antibodies.<sup id="cite_ref-Diagnosis_6-2" class="reference"><a href="#cite_note-Diagnosis-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> As a result, there can be a silent period where the baby displays no symptoms of X-SCID followed by the development of frequent infections.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>X-SCID is caused by a mutation occurring in the xq13.1 locus of the X-chromosome.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Most often, this disease affects males whose mother is a carrier (<a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a>) for the disorder. Because females have two X-chromosomes, the mother will not be affected by carrying only one abnormal X-chromosome, but any male children will have a 50% chance of being affected with the disorder by inheriting the faulty gene. Likewise, her female children will have a 50% chance of being carriers for the immunodeficiency. X-SCID can also arise through <a href="/wiki/De_novo_mutation" title="De novo mutation">de novo mutations</a> and can be prevented in females by <a href="/wiki/X-inactivation" title="X-inactivation">X-inactivation</a>. In X-inactivation the preferential selection of the non-mutant X chromosome during development results in the outcome that none of the mature female cells actively express the X-SCID mutation, they are immunologically unaffected and have no carrier burden. A de novo mutation is an alteration in a gene caused by the result of a mutation in a germ cell (egg or sperm) or in the fertilized egg itself, rather than having been inherited from a carrier. Since only 1/3 of all X-SCID patients have a positive family history of SCID, it is hypothesized that de novo mutations account for a significant percentage of cases.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> X-inactivation occurs in a completely random manner, in females, very early in embryonic development. Once an X is inactivated, it remains inactivated throughout the life of that cell and any of its daughter cells. </p><p>X-inactivation is reversed in female germline cells, so that all new oocytes receive an active X. Regardless of which X is inactivated in her somatic cells, a female will have a 50% chance of passing on the disease to any male children.<sup id="cite_ref-GeneReviews_9-0" class="reference"><a href="#cite_note-GeneReviews-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathophysiology">Pathophysiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=3" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Interleukins" class="mw-redirect" title="Interleukins">Interleukins</a> are produced by lymphocytes, among other cell types, and are released in response to <a href="/wiki/Antigenic" class="mw-redirect" title="Antigenic">antigenic</a> and non-antigenic <a href="/wiki/Stimulus_(physiology)" title="Stimulus (physiology)">stimuli</a>. The gene <a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a> codes for the <a href="/wiki/Common_gamma_chain" title="Common gamma chain">common gamma chain</a> protein, which is a common subunit of the individual receptors for <a href="/wiki/Interleukin_2" title="Interleukin 2">Interleukin 2</a>, <a href="/wiki/Interleukin_4" title="Interleukin 4">Interleukin 4</a>, <a href="/wiki/Interleukin_7" title="Interleukin 7">Interleukin 7</a>, <a href="/wiki/Interleukin_9" title="Interleukin 9">Interleukin 9</a>, <a href="/wiki/Interleukin_15" title="Interleukin 15">Interleukin 15</a> and <a href="/wiki/Interleukin_21" title="Interleukin 21">Interleukin 21</a>.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> Signalling from these receptors normally promotes growth and differentiation of <a href="/wiki/T-cells" class="mw-redirect" title="T-cells">T-cells</a>, <a href="/wiki/B_cells" class="mw-redirect" title="B cells">B cells</a>, <a href="/wiki/Natural_killer_cells" class="mw-redirect" title="Natural killer cells">natural killer cells</a>, <a href="/wiki/Glial_cells" class="mw-redirect" title="Glial cells">glial cells</a>, and cells of the <a href="/wiki/Monocyte" title="Monocyte">monocyte</a> lineage, depending on the cell type and receptor activated.<sup id="cite_ref-Spolski_57–79_11-0" class="reference"><a href="#cite_note-Spolski_57–79-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> The most important receptors for X-SCID are those for <a href="/wiki/Interleukin_2" title="Interleukin 2">Interleukin 2</a>, <a href="/wiki/Interleukin_4" title="Interleukin 4">Interleukin 4</a>, <a href="/wiki/Interleukin_7" title="Interleukin 7">Interleukin 7</a>, and <a href="/wiki/Interleukin_15" title="Interleukin 15">Interleukin 15</a>. Specifically, <a href="/wiki/Interleukin_2" title="Interleukin 2">Interleukin 2</a> and <a href="/wiki/Interleukin_7" title="Interleukin 7">Interleukin 7</a> are responsible for T-cell proliferation and survival.<sup id="cite_ref-Leonard_Cytokines_12-0" class="reference"><a href="#cite_note-Leonard_Cytokines-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Likewise, the action of <a href="/wiki/Interleukin_4" title="Interleukin 4">Interleukin 4</a> and <a href="/wiki/Interleukin_15" title="Interleukin 15">Interleukin 15</a> will lead to proliferation and differentiation of B-cells into antibody secreting plasma cells.<sup id="cite_ref-Leonard_Cytokines_12-1" class="reference"><a href="#cite_note-Leonard_Cytokines-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> Lastly, <a href="/wiki/Interleukin_15" title="Interleukin 15">Interleukin 15</a> helps generate developed and matured natural killer cells.<sup id="cite_ref-molecular_basis_to_clinical_management_5-1" class="reference"><a href="#cite_note-molecular_basis_to_clinical_management-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p><p>The gene that encodes the common gamma chain in these interleukin receptors is mutated in X-SCID. The mutation leads to an absent or abnormally functioning common gamma chain. The mutation can occur through large, or even single nucleotide, deletions in the IL2RG gene, that disable the <a href="/wiki/Common_gamma_chain" title="Common gamma chain">common gamma chain</a> so that it is unable to bind with other receptor subunits and signal cytokine activation.<sup id="cite_ref-Spolski_57–79_11-1" class="reference"><a href="#cite_note-Spolski_57–79-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> Normally, when the interleukin binds to the trimeric receptor protein containing the alpha, beta, and gamma subunits, the common gamma subunit activates Janus Kinase 3 (JAK3), which leads to the phosphorylation of Signal Transducer and Activator of Transcription 5, <a href="/wiki/STAT5" title="STAT5">STAT5</a>. The STAT5 proteins dimerize and translocate to the nucleus, controlling subsequent downstream signalling.<sup id="cite_ref-Fisher_1-1" class="reference"><a href="#cite_note-Fisher-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Due to the fact that the common gamma chain is absent or abnormal, this downstream pathway is inhibited. This change prevents the T-lymphocytes from signaling other cells, like B-lymphocytes and natural killer cells. Because these cells never receive these signals, they can never mature and differentiate into full grown immune cells.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Diagnosis of X-SCID is possible through lymphocyte cell counts, lymphocyte function tests, and <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>. A healthy immune system should contain large amounts of lymphocytes, but individuals with X-SCID will contain unusually small amounts of T-cells, non-functional <a href="/wiki/B-cells" class="mw-redirect" title="B-cells">B-cells</a>, and some <a href="/wiki/Natural_killer_cells" class="mw-redirect" title="Natural killer cells">natural killer cells</a>.<sup id="cite_ref-GeneReviews_9-1" class="reference"><a href="#cite_note-GeneReviews-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable"> <tbody><tr> <th>Cell type</th> <th>Normal lymphocyte count average (range)</th> <th>X-SCID count average (range)</th> <th>Refs </th></tr> <tr> <td>T-cells</td> <td style="text-align:center;">3,680 (2,500–5,500)</td> <td style="text-align:center;">200 (0-800)</td> <td rowspan="4"><sup id="cite_ref-GeneReviews_9-2" class="reference"><a href="#cite_note-GeneReviews-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </td></tr> <tr> <td>B-cells</td> <td style="text-align:center;">730 (300–2,000)</td> <td style="text-align:center;">1,300 (44 - >3,000) </td></tr> <tr> <td>NK cells</td> <td style="text-align:center;">420 (170–1,100)</td> <td style="text-align:center;"><100 </td></tr> <tr> <td>Total</td> <td style="text-align:center;">0–3 months: 5,400 (3,400–7,300)</td> <td style="text-align:center;"><2,000 </td></tr></tbody></table> <p>Individuals with X-SCID often have decreased lymphocyte function. This can be tested through the introduction of agents to the immune system; the reaction of the lymphocytes is then observed. In X-SCID, <a href="/wiki/Antibody" title="Antibody">Antibody</a> responses to introduced vaccines and infections are absent, and T-cell responses to <a href="/wiki/Mitogens" class="mw-redirect" title="Mitogens">mitogens</a>, substances that stimulate lymphocyte transformation, are deficient. IgA and IgM <a href="/wiki/Immunoglobulins" class="mw-redirect" title="Immunoglobulins">immunoglobulins</a>, substances that aid in fighting off infections, are very low. <sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="Source is unclear. (March 2015)">citation needed</span></a></i>]</sup> </p><p>The absence of a <a href="/wiki/Thymic" class="mw-redirect" title="Thymic">thymic</a> shadow on chest X-rays is also indicative of X-SCID.<sup id="cite_ref-GeneReviews_9-3" class="reference"><a href="#cite_note-GeneReviews-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> In a normal child, a distinctive sailboat shaped shadow near the heart can be seen.<sup id="cite_ref-Diagnosis_6-3" class="reference"><a href="#cite_note-Diagnosis-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> The thymus gland in normal patients will gradually decrease in size because the need for the thymus gland diminishes. The decrease in the size of the thymus gland occurs because the body already has a sufficient number of developed T-cells.<sup id="cite_ref-EndocrineWeb_13-0" class="reference"><a href="#cite_note-EndocrineWeb-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> However, a patient with X-SCID will be born with an abnormally small thymus gland at birth.<sup id="cite_ref-GeneReviews_9-4" class="reference"><a href="#cite_note-GeneReviews-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> This indicates that the function of thymus gland, of forming developed T-cells, has been impaired. </p><p>Since the mutation in X-SCID is X-linked, there are <a href="/wiki/Genetic_tests" class="mw-redirect" title="Genetic tests">genetic tests</a> for detecting carriers in X-SCID <a href="/wiki/Pedigree_(animal)" class="mw-redirect" title="Pedigree (animal)">pedigrees</a>. One method is to look for family-specific <a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a> mutations. Finally, if none of those options are available, there is an unusual pattern of nonrandom X-chromosome inactivation on lymphocytes in carriers, thus looking for such inactivation would prove useful. </p><p>If a mother is pregnant and the family has a known history of immunodeficiency, then doctors may perform diagnostic assessment in-utero. Chorionic Villus Sampling, which involves sampling of the placental tissue using a catheter inserted through the cervix, can be performed 8 to 10 weeks into gestation.<sup id="cite_ref-Fischer_14-0" class="reference"><a href="#cite_note-Fischer-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> Alternatively, Amniocentesis, which entails extracting a sample of the fluid which surrounds the fetus, can be performed 15 to 20 weeks into gestation.<sup id="cite_ref-Fischer_14-1" class="reference"><a href="#cite_note-Fischer-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p>Early detection of X-SCID (and other types of SCID) is also made possible through detection of T-cell recombination excision circles, or TRECs. TRECs are composed of excised DNA fragments which are generated during normal splicing of T-cell surface antigen receptors and T-cell maturation.<sup id="cite_ref-Trec_Puck_15-0" class="reference"><a href="#cite_note-Trec_Puck-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> This maturation process is absent across all SCID variants, as evidenced by the low counts of T-lymphocytes. The assay is performed using dried blood from a <a href="/wiki/Dried_blood_spot" title="Dried blood spot">Guthrie card</a>, from which DNA is extracted.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Quantitative_PCR" class="mw-redirect" title="Quantitative PCR">Quantitative PCR</a> is then performed and the number of TRECs determined.<sup id="cite_ref-Verbsky_82–88_17-0" class="reference"><a href="#cite_note-Verbsky_82–88-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Individuals who have the SCID phenotype will have TREC counts as low as <30, compared to approximately 1020 for a healthy infant.<sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> A low TREC count indicates that there is insufficient development of T-cells in the thymus gland.<sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> This technique can predict SCID even when lymphocyte counts are within the normal range. Newborn screening of X-SCID based on TREC count in dried blood samples has recently been introduced in several states in the United States including California, Colorado, Connecticut, Delaware, Florida, Massachusetts, Michigan, Minnesota, Mississippi, New York, Texas, and Wisconsin.<sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> In addition, pilot trials are being performed in several other states beginning in 2013.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatments">Treatments</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=5" title="Edit section: Treatments"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment for X-linked SCID can be divided into two main groups, the prophylactic treatment (i.e. preventative) and curative treatment.<sup id="cite_ref-Fischer_2000_143–149_22-0" class="reference"><a href="#cite_note-Fischer_2000_143–149-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> The former attempts to manage the opportunistic infections common to SCID patients<sup id="cite_ref-Fischer_2000_143–149_22-1" class="reference"><a href="#cite_note-Fischer_2000_143–149-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> and the latter aims at reconstituting healthy T-lymphocyte function.<sup id="cite_ref-Rans_23-0" class="reference"><a href="#cite_note-Rans-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>From the late 60s to early 70s, physicians began using "bubbles", which were plastic enclosures used to house newborns suspected to have SCIDS, immediately after birth.<sup id="cite_ref-Johnston_24-0" class="reference"><a href="#cite_note-Johnston-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> The bubble, a form of isolation, was a sterile environment which meant the infant would avoid infections caused by common and lethal pathogens.<sup id="cite_ref-Johnston_24-1" class="reference"><a href="#cite_note-Johnston-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> On the other hand, prophylactic treatments used today for X-linked SCID are similar to those used to treat other <a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">primary immunodeficiencies</a>.<sup id="cite_ref-Rans_23-1" class="reference"><a href="#cite_note-Rans-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> There are three types of prophylactic treatments, namely, the use of medication, sterile environments, and <a href="/wiki/Intravenous_immunoglobulin" class="mw-redirect" title="Intravenous immunoglobulin">intravenous immunoglobulin</a> therapy (IVIG).<sup id="cite_ref-Rans_23-2" class="reference"><a href="#cite_note-Rans-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> First, antibiotics or antivirals are administered to control opportunistic infections, such as fluconazole for candidiasis, and acyclovir to prevent herpes virus infection.<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> In addition, the patient can also undergo <a href="/wiki/Intravenous_immunoglobulin" class="mw-redirect" title="Intravenous immunoglobulin">intravenous immunoglobulin</a> (IVIG) supplementation.<sup id="cite_ref-Nolte_26-0" class="reference"><a href="#cite_note-Nolte-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> Here, a catheter is inserted into the vein and a fluid, containing antibodies normally made by B-cells, is injected into the patient's body.<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Antibodies" class="mw-redirect" title="Antibodies">Antibodies</a>, Y-shaped proteins created by plasma cells, recognize and neutralize any pathogens in the body.<sup id="cite_ref-Shishido_28-0" class="reference"><a href="#cite_note-Shishido-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> However, the IVIG is expensive, in terms of time and finance.<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> Therefore, the aforementioned treatments only prevent the infections, and are by no means a cure for X-linked SCID.<sup id="cite_ref-Rans_23-3" class="reference"><a href="#cite_note-Rans-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>Bone marrow transplantation (BMT) is a standard curative procedure and results in a full immune reconstitution, if the treatment is successful.<sup id="cite_ref-Burg_561–571_30-0" class="reference"><a href="#cite_note-Burg_561–571-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> Firstly, a bone marrow transplant requires a <a href="/wiki/Human_leukocyte_antigen" title="Human leukocyte antigen">human leukocyte antigen</a> (HLA) match between the donor and the recipient.<sup id="cite_ref-Buckley_1409–1411_31-0" class="reference"><a href="#cite_note-Buckley_1409–1411-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> The HLA is distinct from person to person, which means the immune system utilizes the HLA to distinguish self from foreign cells.<sup id="cite_ref-Martelli_48–56_32-0" class="reference"><a href="#cite_note-Martelli_48–56-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> Furthermore, a BMT can be allogenic or autologous, which means the donor and recipient of bone marrow can be two different people or the same person, respectively.<sup id="cite_ref-Buckley_1409–1411_31-1" class="reference"><a href="#cite_note-Buckley_1409–1411-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> The autologous BMT involves a full HLA match, whereas, the allogenic BMT involves a full or half (haploidentical) HLA match.<sup id="cite_ref-33" class="reference"><a href="#cite_note-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> Particularly, in the allogenic BMT the chances of graft-versus-host-disease occurring is high if the match of the donor and recipient is not close enough.<sup id="cite_ref-Martelli_48–56_32-1" class="reference"><a href="#cite_note-Martelli_48–56-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> In this case, the T-cells in the donor bone marrow attack the patient's body because the body is foreign to this graft.<sup id="cite_ref-Kohn_477–488_34-0" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> The depletion of T-cells in the donor tissue and a close HLA match will reduce the chances of <a href="/wiki/Graft-versus-host_disease" title="Graft-versus-host disease">graft-versus-host disease</a> occurring.<sup id="cite_ref-Rans_357–363_35-0" class="reference"><a href="#cite_note-Rans_357–363-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> Moreover, patients who received an exact HLA match had normal functioning T-cells in fourteen days.<sup id="cite_ref-Buckley_508–516_36-0" class="reference"><a href="#cite_note-Buckley_508–516-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> However, those who received a haploidentical HLA match, their T-cells started to function after four months.<sup id="cite_ref-Buckley_508–516_36-1" class="reference"><a href="#cite_note-Buckley_508–516-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> In addition, the reason BMT is a permanent solution is because the bone marrow contains multipotent <a href="/wiki/Hematopoietic_stem_cells" class="mw-redirect" title="Hematopoietic stem cells">hematopoietic stem cells</a><sup id="cite_ref-Burg_561–571_30-1" class="reference"><a href="#cite_note-Burg_561–571-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> which become common lymphoid or common myeloid progenitors.<sup id="cite_ref-Kondo03_37-0" class="reference"><a href="#cite_note-Kondo03-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> In particular, the common lymphoid progenitor gives rise to the lymphocytes involved in the immune response (B-cell, T-cell, natural killer cell).<sup id="cite_ref-Kondo03_37-1" class="reference"><a href="#cite_note-Kondo03-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> Therefore, a BMT will result in a full immune reconstitution but there are aspects of BMT that need to be improved (i.e. GvHD).<sup id="cite_ref-Fischer_143–149_38-0" class="reference"><a href="#cite_note-Fischer_143–149-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Gene_therapy" title="Gene therapy">Gene therapy</a> is another treatment option which is available only for clinical trials.<sup id="cite_ref-Kohn_477–488_34-1" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> X-linked SCID is a monogenic disorder, the IL2RG gene is mutated, so gene therapy will replace this mutated gene with a normal one.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> This will result in a normal functioning gamma chain protein of the interleukin receptor.<sup id="cite_ref-Rans_357–363_35-1" class="reference"><a href="#cite_note-Rans_357–363-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> In order to transfer a functional gene into the target cell, viral or non-viral vectors can be employed.<sup id="cite_ref-Rans_357–363_35-2" class="reference"><a href="#cite_note-Rans_357–363-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> Viral vectors, such as the <a href="/wiki/Retrovirus" title="Retrovirus">retrovirus</a>, that incorporate the gene into the genome result in long-term effects.<sup id="cite_ref-Kohn_477–488_34-2" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> This, coupled with the bone marrow stem cells, has been successful in treating individuals with X-SCID.<sup id="cite_ref-40" class="reference"><a href="#cite_note-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup> In one particular trial by Cavazzana-Calvo et al., ten children were treated with gene therapy at infancy for X-SCID.<sup id="cite_ref-Cavazzana-Calvo_669–672_41-0" class="reference"><a href="#cite_note-Cavazzana-Calvo_669–672-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> Nine of the ten were cured of X-SCID.<sup id="cite_ref-Cavazzana-Calvo_669–672_41-1" class="reference"><a href="#cite_note-Cavazzana-Calvo_669–672-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> However, about three years after treatment, two of the children developed <a href="/wiki/T-cell_leukemia" title="T-cell leukemia">T-cell leukemia</a> due to insertion of the IL2RG gene near the <a href="/wiki/LMO2" title="LMO2">LMO2</a> gene and thereby activating the LMO2 gene (a known <a href="/wiki/Oncogene" title="Oncogene">oncogene</a>).<sup id="cite_ref-42" class="reference"><a href="#cite_note-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup> A third child developed leukemia within two years of that study being published, likely as a direct result of the therapy.<sup id="cite_ref-43" class="reference"><a href="#cite_note-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup> This condition is known as insertional mutagenesis, where the random insertion of a gene interferes with the tumor suppressor gene or stimulates an oncogene.<sup id="cite_ref-Kohn_477–488_34-3" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> There is currently no approved gene therapy on the market, but there are many clinical trials into which X-SCID patients may enroll. Therefore, research in the field of gene therapy today and in the future is needed to avoid the occurrence of leukemia.<sup id="cite_ref-Rans_357–363_35-3" class="reference"><a href="#cite_note-Rans_357–363-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> In particular, research into the use of insulator and suicide genes is warranted as this may prevent cancer from developing.<sup id="cite_ref-Kohn_477–488_34-4" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> The <a href="/wiki/Insulator_(genetics)" title="Insulator (genetics)">insulator gene</a> inhibits the activation of adjacent genes. On the other hand, the <a href="/wiki/Suicide_gene" title="Suicide gene">suicide gene</a> is stimulated when a tumour begins to form, and this will result in the deactivation of the therapeutic gene.<sup id="cite_ref-Kohn_477–488_34-5" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> Moreover, the use of restriction enzymes such as the <a href="/wiki/Zinc-finger_nuclease" title="Zinc-finger nuclease">zinc-finger nuclease</a> (ZFN) is being studied.<sup id="cite_ref-Kohn_477–488_34-6" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> The ZFN allows the researcher to choose the site of gene integration.<sup id="cite_ref-Kohn_477–488_34-7" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> Vector safety is important in the field of gene therapy, hence vectors that self-inactivate the promoter and enhancer (SIN) and adenoviruses that creates no immune response are prominent areas of research for vector biologists.<sup id="cite_ref-Kohn_477–488_34-8" class="reference"><a href="#cite_note-Kohn_477–488-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=6" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>X-linked SCID is a known pediatric emergency which primarily affects males.<sup id="cite_ref-Buckley_1409–1411_31-2" class="reference"><a href="#cite_note-Buckley_1409–1411-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> If the appropriate treatment such as intravenous immunoglobulin supplements, medications for treating infections or a bone marrow transplant is not administered, then the prognosis is poor.<sup id="cite_ref-Verbsky_82–88_17-1" class="reference"><a href="#cite_note-Verbsky_82–88-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> The patients with X-linked SCID usually die two years after they are born.<sup id="cite_ref-Fischer_143–149_38-1" class="reference"><a href="#cite_note-Fischer_143–149-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> For this reason, the diagnosis of X-linked SCID needs to be done early to prevent any pathogens from infecting the infant. </p><p>However, the patients have a higher chance of survival if the diagnosis of X-linked SCID is done as soon as the baby is born.<sup id="cite_ref-Verbsky_82–88_17-2" class="reference"><a href="#cite_note-Verbsky_82–88-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> This involves taking preventative measures to avoid any infections that can cause death. For example, <a href="/wiki/David_Vetter" title="David Vetter">David Vetter</a> had a high chance of having X-linked SCID because his elder sibling had died due to SCID.<sup id="cite_ref-Cossu_76_44-0" class="reference"><a href="#cite_note-Cossu_76-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> This allowed the doctors to place David in the bubble and prevented infections.<sup id="cite_ref-Cossu_76_44-1" class="reference"><a href="#cite_note-Cossu_76-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup> In addition, if X-linked SCID is known to affect a child, then live vaccines should not be administered and this can save the infant's life. Live attenuated vaccines, which consist of weakened pathogens inserted into the body to create an immune response, can lead to death in infants with X-linked SCID.<sup id="cite_ref-45" class="reference"><a href="#cite_note-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> Moreover, with proper treatments, such as a bone marrow transplant, the prognosis is good. The bone marrow transplant has been successful in treating several patients and resulted in a full immune reconstitution and the patient can live a healthy life.<sup id="cite_ref-46" class="reference"><a href="#cite_note-46"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> The results of bone marrow transplant are most successful when the closest human leukocyte antigen match has been found.<sup id="cite_ref-47" class="reference"><a href="#cite_note-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup> If a close match is not found, however, there is a chance of graft-versus-host-disease which means the donor bone marrow attacks the patient's body.<sup id="cite_ref-Rans_357–363_35-4" class="reference"><a href="#cite_note-Rans_357–363-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> Hence, a close match is required to prevent any complications. </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=7" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There is no information on birth ratios/rates, but "X-Linked SCID is the most common form of SCID and it has been estimated to account for 46% to 70% of all SCID cases."<sup id="cite_ref-48" class="reference"><a href="#cite_note-48"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=8" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">Severe combined immunodeficiency</a></li> <li><a href="/wiki/List_of_genetic_disorders" title="List of genetic disorders">List of genetic disorders</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Notes_and_references">Notes and references</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=9" title="Edit section: Notes and references"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-Fisher-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-Fisher_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Fisher_1-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFFisherHacein-Bey,_S.Cavazzana-Calvo,_M.2002" class="citation journal cs1">Fisher, A.; Hacein-Bey, S.; Cavazzana-Calvo, M. 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"Gene therapy of severe combined immunodeficiencies". <i>Nature Reviews Immunology</i>. <b>2</b> (8): 615–621. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fnri859">10.1038/nri859</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12154380">12154380</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:39791932">39791932</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature+Reviews+Immunology&rft.atitle=Gene+therapy+of+severe+combined+immunodeficiencies&rft.volume=2&rft.issue=8&rft.pages=615-621&rft.date=2002-08&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A39791932%23id-name%3DS2CID&rft_id=info%3Apmid%2F12154380&rft_id=info%3Adoi%2F10.1038%2Fnri859&rft.aulast=Fisher&rft.aufirst=A.&rft.au=Hacein-Bey%2C+S.&rft.au=Cavazzana-Calvo%2C+M.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+severe+combined+immunodeficiency" class="Z3988"></span></span> </li> <li id="cite_note-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-2">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBuckley2000" class="citation journal cs1">Buckley, R.H. 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title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Science&rft.atitle=Gene+Therapy+of+Human+Severe+Combined+Immunodeficiency+%28SCID%29-X1+Disease&rft.volume=288&rft.issue=5466&rft.pages=669-672&rft.date=2000-04-28&rft_id=info%3Apmid%2F10784449&rft_id=info%3Adoi%2F10.1126%2Fscience.288.5466.669&rft_id=info%3Abibcode%2F2000Sci...288..669C&rft.aulast=Cavazzana-Calvo&rft.aufirst=M.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+severe+combined+immunodeficiency" class="Z3988"></span></span> </li> <li id="cite_note-42"><span class="mw-cite-backlink"><b><a href="#cite_ref-42">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://angt.austrianova.com/angt/Brevia.pdf">"Gene Therapy Insertional Mutagenesis Insights"</a> <span class="cs1-format">(PDF)</span>. <i>Science</i>. 16 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(8 February 2012). <a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fpr.2011.65">"Induced pluripotent stem cells and severe combined immunodeficiency: merely disease modeling or potentially a novel cure?"</a>. <i>Pediatric Research</i>. <b>71</b> (4–2): 427–432. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fpr.2011.65">10.1038/pr.2011.65</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/22430378">22430378</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Pediatric+Research&rft.atitle=Induced+pluripotent+stem+cells+and+severe+combined+immunodeficiency%3A+merely+disease+modeling+or+potentially+a+novel+cure%3F&rft.volume=71&rft.issue=4%E2%80%932&rft.pages=427-432&rft.date=2012-02-08&rft_id=info%3Adoi%2F10.1038%2Fpr.2011.65&rft_id=info%3Apmid%2F22430378&rft.aulast=Mikkers&rft.aufirst=Harald&rft.au=Pike-Overzet%2C+Karin&rft.au=Staal%2C+Frank+J.T.&rft_id=https%3A%2F%2Fdoi.org%2F10.1038%252Fpr.2011.65&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+severe+combined+immunodeficiency" class="Z3988"></span></span> </li> <li id="cite_note-48"><span class="mw-cite-backlink"><b><a href="#cite_ref-48">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDavisPuck1993" class="citation book cs1">Davis J, Puck JM (1993). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1410/#x-scid.Prevention_of_Primar">"X-Linked Severe Combined Immunodeficiency"</a>. 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Seattle WA: University of Washington. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301584">20301584</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=X-Linked+Severe+Combined+Immunodeficiency&rft.btitle=GeneReviews&rft.place=Seattle+WA&rft.pub=University+of+Washington&rft.date=1993&rft_id=info%3Apmid%2F20301584&rft.aulast=Davis&rft.aufirst=J&rft.au=Puck%2C+JM&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1410%2F%23x-scid.Prevention_of_Primar&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+severe+combined+immunodeficiency" class="Z3988"></span><sup class="noprint Inline-Template" style="margin-left:0.1em; white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Please_clarify" title="Wikipedia:Please clarify"><span title="author names correct? is this a duplicate of Allenspach et al. in §references? (June 2021)">clarification needed</span></a></i>]</sup></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=10" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1251242444">.mw-parser-output .ambox{border:1px solid #a2a9b1;border-left:10px solid #36c;background-color:#fbfbfb;box-sizing:border-box}.mw-parser-output .ambox+link+.ambox,.mw-parser-output .ambox+link+style+.ambox,.mw-parser-output .ambox+link+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+style+.ambox,.mw-parser-output .ambox+.mw-empty-elt+link+link+.ambox{margin-top:-1px}html body.mediawiki .mw-parser-output .ambox.mbox-small-left{margin:4px 1em 4px 0;overflow:hidden;width:238px;border-collapse:collapse;font-size:88%;line-height:1.25em}.mw-parser-output .ambox-speedy{border-left:10px solid #b32424;background-color:#fee7e6}.mw-parser-output .ambox-delete{border-left:10px solid #b32424}.mw-parser-output .ambox-content{border-left:10px solid #f28500}.mw-parser-output .ambox-style{border-left:10px solid #fc3}.mw-parser-output .ambox-move{border-left:10px solid #9932cc}.mw-parser-output .ambox-protection{border-left:10px solid #a2a9b1}.mw-parser-output .ambox .mbox-text{border:none;padding:0.25em 0.5em;width:100%}.mw-parser-output .ambox .mbox-image{border:none;padding:2px 0 2px 0.5em;text-align:center}.mw-parser-output .ambox .mbox-imageright{border:none;padding:2px 0.5em 2px 0;text-align:center}.mw-parser-output .ambox .mbox-empty-cell{border:none;padding:0;width:1px}.mw-parser-output .ambox .mbox-image-div{width:52px}@media(min-width:720px){.mw-parser-output .ambox{margin:0 10%}}@media print{body.ns-0 .mw-parser-output .ambox{display:none!important}}</style><table class="box-More_footnotes_needed plainlinks metadata ambox ambox-style ambox-More_footnotes_needed" role="presentation"><tbody><tr><td class="mbox-image"><div class="mbox-image-div"><span typeof="mw:File"><span><img alt="" src="//upload.wikimedia.org/wikipedia/commons/thumb/a/a4/Text_document_with_red_question_mark.svg/40px-Text_document_with_red_question_mark.svg.png" decoding="async" width="40" height="40" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/a/a4/Text_document_with_red_question_mark.svg/60px-Text_document_with_red_question_mark.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/a/a4/Text_document_with_red_question_mark.svg/80px-Text_document_with_red_question_mark.svg.png 2x" data-file-width="48" data-file-height="48" /></span></span></div></td><td class="mbox-text"><div class="mbox-text-span">This article includes a list of <a href="/wiki/Wikipedia:Citing_sources#General_references" title="Wikipedia:Citing sources">general references</a>, but <b>it lacks sufficient corresponding <a href="/wiki/Wikipedia:Citing_sources#Inline_citations" title="Wikipedia:Citing sources">inline citations</a></b>.<span class="hide-when-compact"> Please help to <a href="/wiki/Wikipedia:WikiProject_Reliability" title="Wikipedia:WikiProject Reliability">improve</a> this article by <a href="/wiki/Wikipedia:When_to_cite" title="Wikipedia:When to cite">introducing</a> more precise citations.</span> <span class="date-container"><i>(<span class="date">April 2020</span>)</i></span><span class="hide-when-compact"><i> (<small><a href="/wiki/Help:Maintenance_template_removal" title="Help:Maintenance template removal">Learn how and when to remove this message</a></small>)</i></span></div></td></tr></tbody></table> <ul><li><a rel="nofollow" class="external free" href="https://web.archive.org/web/20081122091233/http://www.scid.net/about.htm">https://web.archive.org/web/20081122091233/http://www.scid.net/about.htm</a></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGeneReviews2016" class="citation book cs1">Allenspach E, Rawlings DJ, Scharenberg AM (2016) [1993]. <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1410/#x-scid.Prevention_of_Primar">"X-Linked Severe Combined Immunodeficiency"</a>. In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). <i>GeneReviews [Internet]</i>. Seattle WA: University of Washington. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301584">20301584</a>. NBK1410.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=X-Linked+Severe+Combined+Immunodeficiency&rft.btitle=GeneReviews+%5BInternet%5D&rft.place=Seattle+WA&rft.pub=University+of+Washington&rft.date=2016&rft_id=info%3Apmid%2F20301584&rft.aulast=Allenspach&rft.aufirst=Eric&rft.au=Rawlings%2C+David+J.&rft.au=Scharenberg%2C+Andrew+M.&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1410%2F%23x-scid.Prevention_of_Primar&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+severe+combined+immunodeficiency" class="Z3988"></span></li> <li><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/308380">Interleukin 2 receptor, Gamma; IL2RG - 308380</a></li> <li><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/300400">Severe Combined Immunodeficiency, X-Linked; SCIDX1 - 300400</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_severe_combined_immunodeficiency&action=edit&section=11" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output 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dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1423538" class="extiw" title="d:Q1423538">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D81.1">D81.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=279.2">279.2</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/300400">300400</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/308380">308380</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D053632">D053632</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb33502.htm">33502</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style 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abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Lymphoid_and_complement_immunodeficiency" title="Template:Lymphoid and complement immunodeficiency"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Lymphoid_and_complement_immunodeficiency" title="Template talk:Lymphoid and complement immunodeficiency"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Lymphoid_and_complement_immunodeficiency" title="Special:EditPage/Template:Lymphoid and complement immunodeficiency"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="font-size:114%;margin:0 4em"><a href="/wiki/Lymphatic_system" title="Lymphatic system">Lymphoid</a> and <a href="/wiki/Complement_system" title="Complement system">complement</a> disorders causing <a href="/wiki/Immunodeficiency" title="Immunodeficiency">immunodeficiency</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">Primary</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Antibody" title="Antibody">Antibody</a>/<a href="/wiki/Humoral_immune_deficiency" title="Humoral immune deficiency">humoral</a><br />(<a href="/wiki/B_cell" title="B cell">B</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Transient_hypogammaglobulinemia_of_infancy" title="Transient hypogammaglobulinemia of infancy">Transient hypogammaglobulinemia of infancy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dysgammaglobulinemia" title="Dysgammaglobulinemia">Dysgammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">IgA deficiency</a></li> <li><a href="/wiki/IgG_deficiency" title="IgG deficiency">IgG deficiency</a></li> <li><a href="/wiki/Immunoglobulin_M_deficiency" class="mw-redirect" title="Immunoglobulin M deficiency">IgM deficiency</a></li> <li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_2" title="Hyper-IgM syndrome type 2">2</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">3</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_4" title="Hyper-IgM syndrome type 4">4</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_5" title="Hyper-IgM syndrome type 5">5</a>)</li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyper-IgE syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">Common variable immunodeficiency</a></li> <li><a href="/wiki/ICF_syndrome" class="mw-redirect" title="ICF syndrome">ICF syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/T_cell_deficiency" title="T cell deficiency">T cell deficiency</a><br />(<a href="/wiki/T_cell" title="T cell">T</a>)</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thymic_hypoplasia" title="Thymic hypoplasia">thymic hypoplasia</a>:</i> <i>hypoparathyroid</i> (<a href="/wiki/DiGeorge_syndrome" title="DiGeorge syndrome">Di George's syndrome</a>)</li> <li><i>euparathyroid</i> (<a href="/wiki/Nezelof_syndrome" title="Nezelof syndrome">Nezelof syndrome</a></li> <li><a href="/wiki/Ataxia%E2%80%93telangiectasia" title="Ataxia–telangiectasia">Ataxia–telangiectasia</a>)</li></ul> <p><i>peripheral:</i> <a href="/wiki/Purine_nucleoside_phosphorylase_deficiency" title="Purine nucleoside phosphorylase deficiency">Purine nucleoside phosphorylase deficiency</a> </p> <ul><li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">Severe</a> <a href="/wiki/Combined_immunodeficiencies" title="Combined immunodeficiencies">combined</a><br />(B+T)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>x-linked:</i> <a class="mw-selflink selflink">X-SCID</a><br /><i>autosomal:</i> <a href="/wiki/Adenosine_deaminase_deficiency" title="Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></li> <li><a href="/wiki/Omenn_syndrome" title="Omenn syndrome">Omenn syndrome</a></li> <li><a href="/wiki/ZAP70_deficiency" title="ZAP70 deficiency">ZAP70 deficiency</a></li> <li><a href="/wiki/Bare_lymphocyte_syndrome" title="Bare lymphocyte syndrome">Bare lymphocyte syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immunodeficiency#acquired" title="Immunodeficiency">Acquired</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/HIV/AIDS" title="HIV/AIDS">HIV/AIDS</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Leukopenia" title="Leukopenia">Leukopenia</a>:<br /><a href="/wiki/Lymphocytopenia" title="Lymphocytopenia">Lymphocytopenia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Idiopathic_CD4%2B_lymphocytopenia" title="Idiopathic CD4+ lymphocytopenia">Idiopathic CD4+ lymphocytopenia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Complement_deficiency" title="Complement deficiency">Complement<br />deficiency</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/C1-inhibitor" title="C1-inhibitor">C1-inhibitor</a></i> (<a href="/wiki/Angioedema" title="Angioedema">Angioedema</a>/<a href="/wiki/Hereditary_angioedema" title="Hereditary angioedema">Hereditary angioedema</a>)</li> <li><a href="/wiki/Complement_2_deficiency" title="Complement 2 deficiency">Complement 2 deficiency</a>/<a href="/wiki/Complement_4_deficiency" title="Complement 4 deficiency">Complement 4 deficiency</a></li> <li><a href="/wiki/MBL_deficiency" title="MBL deficiency">MBL deficiency</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li> <li><a href="/wiki/Complement_3_deficiency" title="Complement 3 deficiency">Complement 3 deficiency</a></li> <li><a href="/wiki/Terminal_complement_pathway_deficiency" title="Terminal complement pathway deficiency">Terminal complement pathway deficiency</a></li> <li><a href="/wiki/Paroxysmal_nocturnal_hemoglobinuria" title="Paroxysmal nocturnal hemoglobinuria">Paroxysmal nocturnal hemoglobinuria</a></li> <li><a href="/wiki/Complement_receptor_deficiency" class="mw-redirect" title="Complement receptor deficiency">Complement receptor deficiency</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="X-linked_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:X-linked_disorders" title="Template:X-linked disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:X-linked_disorders" title="Template talk:X-linked disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:X-linked_disorders" title="Special:EditPage/Template:X-linked disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="X-linked_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> disorders</div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_recessive" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immune_disorder" title="Immune disorder">Immune</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Chronic_granulomatous_disease" title="Chronic granulomatous disease">Chronic granulomatous disease (CYBB)</a></li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a class="mw-selflink selflink">X-linked severe combined immunodeficiency</a></li> <li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></li> <li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li> <li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">X-linked lymphoproliferative disease</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Hematologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Haemophilia_A" title="Haemophilia A">Haemophilia A</a></li> <li><a href="/wiki/Haemophilia_B" title="Haemophilia B">Haemophilia B</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">X-linked sideroblastic anemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrine</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a>/<a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Spinal and bulbar muscular atrophy</a></li> <li><a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL1 Kallmann syndrome</a></li> <li><a href="/wiki/X-linked_adrenal_hypoplasia_congenita" title="X-linked adrenal hypoplasia congenita">X-linked adrenal hypoplasia congenita</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_disorder" title="Metabolic disorder">Metabolic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Congenital_disorders_of_amino_acid_metabolism" title="Congenital disorders of amino acid metabolism">Amino acid</a>:</i> <a href="/wiki/Ornithine_transcarbamylase_deficiency" title="Ornithine transcarbamylase deficiency">Ornithine transcarbamylase deficiency</a></li> <li><a href="/wiki/Oculocerebrorenal_syndrome" title="Oculocerebrorenal syndrome">Oculocerebrorenal syndrome</a></li></ul> <ul><li><i><a href="/wiki/Dyslipidemia" title="Dyslipidemia">Dyslipidemia</a>:</i> <a href="/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy">Adrenoleukodystrophy</a></li></ul> <ul><li><i><a href="/wiki/Carbohydrate_metabolism" title="Carbohydrate metabolism">Carbohydrate metabolism</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Pyruvate_dehydrogenase_deficiency" title="Pyruvate dehydrogenase deficiency">Pyruvate dehydrogenase deficiency</a></li> <li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease/glycogen storage disease Type IIb</a></li></ul> <ul><li><i><a href="/wiki/Lipid_storage_disorder" title="Lipid storage disorder">Lipid storage disorder</a></i>: <a href="/wiki/Fabry_disease" title="Fabry disease">Fabry disease</a></li></ul> <ul><li><i><a href="/wiki/Mucopolysaccharidosis" title="Mucopolysaccharidosis">Mucopolysaccharidosis</a>:</i> <a href="/wiki/Hunter_syndrome" title="Hunter syndrome">Hunter syndrome</a></li></ul> <ul><li><i><a href="/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Inborn errors of purine–pyrimidine metabolism">Purine–pyrimidine metabolism</a>:</i> <a href="/wiki/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a></li></ul> <ul><li><i><a href="/wiki/Mineral_(nutrient)" title="Mineral (nutrient)">Mineral</a>:</i> <a href="/wiki/Menkes_disease" title="Menkes disease">Menkes disease</a>/<a href="/wiki/Occipital_horn_syndrome" title="Occipital horn syndrome">Occipital horn syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nervous_system_disease" title="Nervous system disease">Nervous system</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability</a>:</i> <a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin–Lowry syndrome</a></li> <li><a href="/wiki/MASA_syndrome" title="MASA syndrome">MASA syndrome</a></li> <li><a href="/wiki/Alpha-thalassemia_mental_retardation_syndrome" class="mw-redirect" title="Alpha-thalassemia mental retardation syndrome">Alpha-thalassemia mental retardation syndrome</a></li> <li><a href="/wiki/PHF8" title="PHF8">PHF8</a></li></ul> <ul><li><i>Eye disorders:</i> <a href="/wiki/Color_blindness#Genetic_modes_of_inheritance" title="Color blindness">Color blindness (red and green, but not blue)</a></li> <li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism</a> (<a href="/wiki/Ocular_albinism_type_1" title="Ocular albinism type 1">1</a>)</li> <li><a href="/wiki/Norrie_disease" title="Norrie disease">Norrie disease</a></li> <li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li></ul> <ul><li><i>Other:</i> <a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease (CMTX2-3)</a></li> <li><a href="/wiki/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/X-linked_spinal_muscular_atrophy_type_2" title="X-linked spinal muscular atrophy type 2">SMAX2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Skin_condition" title="Skin condition">Skin</a> and related tissue</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dyskeratosis_congenita" title="Dyskeratosis congenita">Dyskeratosis congenita</a></li> <li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia (EDA)</a></li> <li><a href="/wiki/X-linked_ichthyosis" title="X-linked ichthyosis">X-linked ichthyosis</a></li> <li><a href="/wiki/X-linked_endothelial_corneal_dystrophy" title="X-linked endothelial corneal dystrophy">X-linked endothelial corneal dystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">Neuromuscular</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Becker_muscular_dystrophy" title="Becker muscular dystrophy">Becker muscular dystrophy</a>/<a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li> <li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">Centronuclear myopathy (MTM1)</a></li> <li><a href="/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome" title="Conradi–Hünermann syndrome">Conradi–Hünermann syndrome</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss muscular dystrophy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Urologic_disease" title="Urologic disease">Urologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li> <li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li> <li><a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">X-linked nephrogenic diabetes insipidus</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Bone" title="Bone">Bone</a>/<a href="/wiki/Tooth" title="Tooth">tooth</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Amelogenesis_imperfecta" title="Amelogenesis imperfecta">AMELX Amelogenesis imperfecta</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">No primary system</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barth_syndrome" title="Barth syndrome">Barth syndrome</a></li> <li><a href="/wiki/McLeod_syndrome" title="McLeod syndrome">McLeod syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Fineman%E2%80%93Myers_syndrome" title="Smith–Fineman–Myers syndrome">Smith–Fineman–Myers syndrome</a></li> <li><a href="/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome" title="Simpson–Golabi–Behmel syndrome">Simpson–Golabi–Behmel syndrome</a></li> <li><a href="/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome" title="Mohr–Tranebjærg syndrome">Mohr–Tranebjærg syndrome</a></li> <li><a href="/wiki/Nasodigitoacoustic_syndrome" title="Nasodigitoacoustic syndrome">Nasodigitoacoustic syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_dominant" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked dominant</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist ;" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_hypophosphatemia" title="X-linked hypophosphatemia">X-linked hypophosphatemia</a></li> <li><a href="/wiki/Focal_dermal_hypoplasia" title="Focal dermal hypoplasia">Focal dermal hypoplasia</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Aicardi_syndrome" title="Aicardi syndrome">Aicardi syndrome</a></li> <li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/CHILD_syndrome" title="CHILD syndrome">CHILD syndrome</a></li> <li><a href="/wiki/Lujan%E2%80%93Fryns_syndrome" title="Lujan–Fryns syndrome">Lujan–Fryns syndrome</a></li> <li><a href="/wiki/Orofaciodigital_syndrome_1" title="Orofaciodigital syndrome 1">Orofaciodigital syndrome 1</a></li> <li><a href="/wiki/Craniofrontonasal_dysplasia" title="Craniofrontonasal dysplasia">Craniofrontonasal dysplasia</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Cell_surface_receptor_deficiencies" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Class A</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung's disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen's metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann's thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a class="mw-selflink selflink">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=X-linked_severe_combined_immunodeficiency&oldid=1234143265">https://en.wikipedia.org/w/index.php?title=X-linked_severe_combined_immunodeficiency&oldid=1234143265</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Combined_T_and_B%E2%80%93cell_immunodeficiencies" title="Category:Combined T and B–cell 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