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class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/ADA_sindiromu" title="ADA sindiromu – Azerbaijani" lang="az" hreflang="az" data-title="ADA sindiromu" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Nedostatak_adenozin-deaminaze" title="Nedostatak adenozin-deaminaze – Bosnian" lang="bs" hreflang="bs" data-title="Nedostatak adenozin-deaminaze" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Heredit%C3%A4rer_Adenosindesaminase-Mangel" title="Hereditärer Adenosindesaminase-Mangel – German" lang="de" hreflang="de" data-title="Hereditärer Adenosindesaminase-Mangel" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Inmunodeficiencia_combinada_grave_por_d%C3%A9ficit_de_adenosina_desaminasa" title="Inmunodeficiencia combinada grave por déficit de adenosina desaminasa – Spanish" lang="es" hreflang="es" data-title="Inmunodeficiencia combinada grave por déficit de adenosina desaminasa" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/D%C3%A9ficit_immunitaire_combin%C3%A9_s%C3%A9v%C3%A8re_par_d%C3%A9ficit_en_ad%C3%A9nosine_d%C3%A9saminase" title="Déficit immunitaire combiné sévère par déficit en adénosine désaminase – French" lang="fr" hreflang="fr" data-title="Déficit immunitaire combiné sévère par déficit en adénosine désaminase" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Deficit_di_adenosina_deaminasi" title="Deficit di adenosina deaminasi – Italian" lang="it" hreflang="it" data-title="Deficit di adenosina deaminasi" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Niedob%C3%B3r_deaminazy_adenozynowej" title="Niedobór deaminazy adenozynowej – Polish" lang="pl" hreflang="pl" data-title="Niedobór deaminazy adenozynowej" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link 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.hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">This article is about a metabolic disorder caused by ADA gene mutations. For the vasculitis syndrome caused by ADA2 gene mutations, see <a href="/wiki/Adenosine_deaminase_2_deficiency" title="Adenosine deaminase 2 deficiency">Adenosine deaminase 2 deficiency</a>.</div> <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">Adenosine deaminase deficiency</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data"><b>ADA deficiency</b>, <b>ADA-SCID</b>, and <b>Severe combined immunodeficiency due to ADA deficiency</b></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:Autosomal_recessive_-_en.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Autosomal_recessive_-_en.svg/220px-Autosomal_recessive_-_en.svg.png" decoding="async" width="220" height="382" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Autosomal_recessive_-_en.svg/330px-Autosomal_recessive_-_en.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/f/f1/Autosomal_recessive_-_en.svg/440px-Autosomal_recessive_-_en.svg.png 2x" data-file-width="738" data-file-height="1283" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">Adenosine deaminase deficiency has an autosomal recessive pattern of <a href="/wiki/Inheritance" title="Inheritance">inheritance</a>.</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/Immunology" title="Immunology">Immunology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1055374?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>Adenosine deaminase deficiency</b> (<b>ADA deficiency</b>) is a <a href="/wiki/Metabolic_disorder" title="Metabolic disorder">metabolic disorder</a> that causes <a href="/wiki/Immunodeficiency" title="Immunodeficiency">immunodeficiency</a>. It is caused by mutations in the <a href="/wiki/ADA_(gene)" class="mw-redirect" title="ADA (gene)">ADA gene</a>. It accounts for about 10–20% of all cases of <a href="/wiki/Autosome" title="Autosome">autosomal</a> <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">recessive</a> forms of <a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">severe combined immunodeficiency</a> (SCID) after excluding disorders related to <a href="/wiki/Inbreeding" title="Inbreeding">inbreeding</a>.<sup id="cite_ref-Flinn_2018_1-0" class="reference"><a href="#cite_note-Flinn_2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Fischer_2022_2-0" class="reference"><a href="#cite_note-Fischer_2022-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>ADA deficiency can present in <a href="/wiki/Infant" title="Infant">infancy</a>, childhood, adolescence, or adulthood. Age of onset and severity is related to some 29 known <a href="/wiki/Genotype" title="Genotype">genotypes</a> associated with the disorder.<sup id="cite_ref-Arredondo-Vega_1998_3-0" class="reference"><a href="#cite_note-Arredondo-Vega_1998-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> It occurs in fewer than one in 100,000 live births worldwide. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adenosine_deaminase_deficiency&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The main symptoms of ADA deficiency include pneumonia, chronic diarrhea, widespread skin rashes, <a href="/wiki/Jaundice" title="Jaundice">jaundice</a> (from hepatic infections), and <a href="/wiki/Candidiasis" title="Candidiasis">candidiasis</a> of the mouth and esophagus. Affected children also grow much more slowly than healthy children, commonly referred to as "<a href="/wiki/Failure_to_thrive" title="Failure to thrive">failure to thrive</a>," which may lead to other <a href="/wiki/Developmental_delays" class="mw-redirect" title="Developmental delays">developmental delays</a>.<sup id="cite_ref-Grunebaum_2023_4-0" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>These symptoms are not due to the enzyme deficiency itself, but rather to the effects of frequent severe infections from viruses, bacteria, and certain fungi.<sup id="cite_ref-Grunebaum_2023_4-1" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Children are particularly vulnerable to repeated infections from the same organisms, as their lack of <a href="/wiki/B_cell" title="B cell">B-cells</a> means they cannot produce <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">IgG antibodies</a> in significant amounts, which protect most people from pathogens that have infected them before.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Most individuals with ADA deficiency are diagnosed with SCID in the first 6 months of life.<sup id="cite_ref-Shovlin_1994_6-0" class="reference"><a href="#cite_note-Shovlin_1994-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c1/Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg/220px-Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg" decoding="async" width="220" height="148" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c1/Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg/330px-Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c1/Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg/440px-Oral_thrush_Aphthae_Candida_albicans._PHIL_1217_lores.jpg 2x" data-file-width="2961" data-file-height="1998" /></a><figcaption>Oral candidiasis, an infection frequently seen in SCID</figcaption></figure> <p>The large majority of cases of ADA deficiency are identified and diagnosed in children. However, a small minority have a less-severe form of the disease and remain undiagnosed until childhood, adolescence, or adulthood.<sup id="cite_ref-Grunebaum_2023_4-2" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Shovlin_1994_6-1" class="reference"><a href="#cite_note-Shovlin_1994-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>An association with polyarteritis nodosa has been reported.<sup id="cite_ref-Liebowitz_2019_7-0" class="reference"><a href="#cite_note-Liebowitz_2019-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></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=Adenosine_deaminase_deficiency&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The enzyme adenosine deaminase is encoded by the ADA gene on <a href="/wiki/Chromosome_20_(human)" class="mw-redirect" title="Chromosome 20 (human)">chromosome 20</a>.<sup id="cite_ref-Flinn_2018_1-1" class="reference"><a href="#cite_note-Flinn_2018-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> ADA deficiency is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an <a href="/wiki/Autosome" title="Autosome">autosome</a> (chromosome 20 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both <a href="/wiki/Genetic_carrier" class="mw-redirect" title="Genetic carrier">carry</a> one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.<sup id="cite_ref-Grunebaum_2023_4-3" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup><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> </p><p>Age of onset and severity is related to some 29 known <a href="/wiki/Genotype" title="Genotype">genotypes</a> associated with the disorder.<sup id="cite_ref-Arredondo-Vega_1998_3-1" class="reference"><a href="#cite_note-Arredondo-Vega_1998-3"><span class="cite-bracket">[</span>3<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=Adenosine_deaminase_deficiency&action=edit&section=3" title="Edit section: Pathophysiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>ADA deficiency is due to a lack of the <a href="/wiki/Enzyme" title="Enzyme">enzyme</a> <a href="/wiki/Adenosine_deaminase" title="Adenosine deaminase">adenosine deaminase</a>. This deficiency results in an accumulation of <a href="/wiki/Deoxyadenosine" title="Deoxyadenosine">deoxyadenosine</a>,<sup id="cite_ref-Fischer_2022_2-1" class="reference"><a href="#cite_note-Fischer_2022-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Univ_Utah_9-0" class="reference"><a href="#cite_note-Univ_Utah-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> which, in turn, leads to: </p> <ul><li>A buildup of <a href="/wiki/Deoxyadenosine_triphosphate" title="Deoxyadenosine triphosphate">dATP</a> in all cells, which inhibits <a href="/wiki/Ribonucleotide_reductase" title="Ribonucleotide reductase">ribonucleotide reductase</a> and prevents <a href="/wiki/DNA_synthesis" title="DNA synthesis">DNA synthesis</a>, so cells are unable to divide. Since developing <a href="/wiki/T_cell" title="T cell">T cells</a> and <a href="/wiki/B_cell" title="B cell">B cells</a> are some of the most mitotically active cells, they are highly susceptible to this condition.</li> <li>An increase in <a href="/wiki/S-adenosylhomocysteine" class="mw-redirect" title="S-adenosylhomocysteine">S-adenosylhomocysteine</a> since the enzyme adenosine deaminase is important in the <a href="/wiki/Purine_salvage_pathway" class="mw-redirect" title="Purine salvage pathway">purine salvage pathway</a>; both substances are toxic to immature <a href="/wiki/Lymphocytes" class="mw-redirect" title="Lymphocytes">lymphocytes</a>, which thus fail to mature.</li> <li>Complete or near-complete absence of T-cells, B-cells, and <a href="/wiki/Natural_killer_cell" title="Natural killer cell">NK cells</a>.<sup id="cite_ref-Fischer_2022_2-2" class="reference"><a href="#cite_note-Fischer_2022-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup></li></ul> <p>Because T cells undergo proliferation and development in the <a href="/wiki/Thymus" title="Thymus">thymus</a>, affected individuals typically have a small, underdeveloped <a href="/wiki/Thymus" title="Thymus">thymus</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> As a result, the <a href="/wiki/Immune_system" title="Immune system">immune system</a> is severely compromised or completely lacking.<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. (October 2024)">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=Adenosine_deaminase_deficiency&action=edit&section=4" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Diagnosis in developed nations is usually done through standardized <a href="/wiki/Newborn_screening" title="Newborn screening">newborn screening</a> tests for a range of <a href="/wiki/Congenital_diseases" class="mw-redirect" title="Congenital diseases">congenital diseases</a>, including ADA deficiency. Most newborns with SCID, including those with ADA deficiency as an underlying cause, can be identified before the onset of major infections due to their decreased levels of <a href="/wiki/T-cell_receptor_excision_circles" title="T-cell receptor excision circles">T-cell receptor excision circles</a> (TRECs). TRECs are a normal product of T-cell development, and a deficit of them indicates a problem with lymphocyte maturation.<sup id="cite_ref-Grunebaum_2023_4-4" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>In the absence of newborn screening or to differentiate from other causes of SCID, some (but not all) children will display one or more of these features which are sometimes seen in ADA deficiency but not other forms of SCID:<sup id="cite_ref-Grunebaum_2023_4-5" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Earlier onset of <a href="/wiki/Failure_to_thrive" title="Failure to thrive">failure to thrive</a></li> <li><a href="/wiki/Shortness_of_breath" title="Shortness of breath">Respiratory distress</a> in an infant that is not caused by an infection</li> <li>Abnormal rib cage development</li> <li>Neurologic disorders, especially hearing loss</li></ul> <p>When ADA deficiency is suspected, the diagnosis may be confirmed through several lab tests of the patient's red blood cells, or via <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>.<sup id="cite_ref-Grunebaum_2023_4-6" class="reference"><a href="#cite_note-Grunebaum_2023-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adenosine_deaminase_deficiency&action=edit&section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment of ADA deficiency focuses on reducing the frequency and severity of infections. <a href="/wiki/Antibiotic" title="Antibiotic">Antibiotics</a> are typically prescribed as a <a href="/wiki/Prophylactic" class="mw-redirect" title="Prophylactic">prophylactic</a> measure to make the body more difficult for pathogenic organisms to colonize. Due to the frequency it is encountered and its indifference to most antibiotics, clinicians must be careful to include a medication that can prevent <a href="/wiki/Pneumocystis_pneumonia" title="Pneumocystis pneumonia"><i>Pneumocystis</i> pneumonia</a>.<sup id="cite_ref-Grunebaum_2023_2_11-0" class="reference"><a href="#cite_note-Grunebaum_2023_2-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p>In addition to antibiotics, <a href="/wiki/Immunoglobulin_therapy" title="Immunoglobulin therapy">intravenous immunoglobulin</a> (IVIG) therapy is also provided when available. This treatment provides a layer of <a href="/wiki/Humoral_immunity" title="Humoral immunity">humoral immunity</a> from healthy <a href="/wiki/Plasma_donation" class="mw-redirect" title="Plasma donation">plasma donors</a>.<sup id="cite_ref-Grunebaum_2023_2_11-1" class="reference"><a href="#cite_note-Grunebaum_2023_2-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Enzyme_replacement_therapy" title="Enzyme replacement therapy">Enzyme replacement therapy</a> is provided to newborns until a definitive therapy plan can be implemented.<sup id="cite_ref-Grunebaum_2023_2_11-2" class="reference"><a href="#cite_note-Grunebaum_2023_2-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> There is some evidence that ERT also prevents tissue damage related to accumulated dATP and other molecules.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Stem_cell_transplantation">Stem cell transplantation</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adenosine_deaminase_deficiency&action=edit&section=6" title="Edit section: Stem cell transplantation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Long-term definitive treatment of ADA deficiency is typically achieved by <a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">transplantation</a> of <a href="/wiki/Hematopoietic_stem_cell" title="Hematopoietic stem cell">hematopoietic stem cells</a> from a matched family member donor, preferably a sibling. Before transplantation, testing must be done to ensure that <a href="/wiki/Human_leukocyte_antigen" title="Human leukocyte antigen">human leukocyte antigen</a> (HLA) properties of the donor and the transplant recipient align, to avoid <a href="/wiki/Transplant_rejection" title="Transplant rejection">transplant rejection</a>.<sup id="cite_ref-Grunebaum_2023_2_11-3" class="reference"><a href="#cite_note-Grunebaum_2023_2-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Gene_therapy">Gene therapy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adenosine_deaminase_deficiency&action=edit&section=7" title="Edit section: Gene therapy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The other definitive therapy available for ADA deficiency is <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>. These therapies use a <a href="/wiki/Viral_vector" title="Viral vector">viral vector</a> to integrate a working copy of the gene into the patient's genome.<sup id="cite_ref-Grunebaum_2023_2_11-4" class="reference"><a href="#cite_note-Grunebaum_2023_2-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p>In September 1990, the first gene therapy to combat this disease was performed by Dr. <a href="/wiki/William_French_Anderson" title="William French Anderson">William French Anderson</a> on a four-year-old girl, <a href="/w/index.php?title=Ashanti_DeSilva&action=edit&redlink=1" class="new" title="Ashanti DeSilva (page does not exist)">Ashanti DeSilva</a>, at the <a href="/wiki/National_Institutes_of_Health" title="National Institutes of Health">National Institutes of Health</a>, Bethesda, Maryland, U.S.A.<sup id="cite_ref-titleMore_Than_Human_-_New_York_Times_13-0" class="reference"><a href="#cite_note-titleMore_Than_Human_-_New_York_Times-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> In April 2016 the <a href="/wiki/Committee_for_Medicinal_Products_for_Human_Use" title="Committee for Medicinal Products for Human Use">Committee for Medicinal Products for Human Use</a> of the <a href="/wiki/European_Medicines_Agency" title="European Medicines Agency">European Medicines Agency</a> endorsed and recommended for approval a stem cell <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> called <a href="/wiki/Strimvelis" title="Strimvelis">Strimvelis</a>, for children with ADA-SCID for whom no matching bone marrow donor is available.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-EMA+Strimvelis_15-0" class="reference"><a href="#cite_note-EMA+Strimvelis-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adenosine_deaminase_deficiency&action=edit&section=8" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>ADA deficiency was discovered in 1972 by <a href="/wiki/Eloise_Giblett" title="Eloise Giblett">Eloise Giblett</a>, a professor at the <a href="/wiki/University_of_Washington" title="University of Washington">University of Washington</a>.<sup id="cite_ref-Motulsky_2009_16-0" class="reference"><a href="#cite_note-Motulsky_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> The ADA gene was used as a marker for <a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">bone marrow transplants</a>. A lack of ADA activity was discovered by Giblett in an immunocompromised transplant candidate. After discovering a second case of ADA deficiency in an immunocompromised patient, ADA deficiency was recognized as the first immunodeficiency disorder.<sup id="cite_ref-Motulsky_2009_16-1" class="reference"><a href="#cite_note-Motulsky_2009-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p> <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=Adenosine_deaminase_deficiency&action=edit&section=9" title="Edit section: 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-Flinn_2018-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-Flinn_2018_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Flinn_2018_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="CITEREFFlinnGennery2018" class="citation journal cs1">Flinn AM, Gennery AR (April 2018). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5916829">"Adenosine deaminase deficiency: a review"</a>. <i>Orphanet Journal of Rare Diseases</i>. <b>13</b> (1): 65. <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/10.1186%2Fs13023-018-0807-5">10.1186/s13023-018-0807-5</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" 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href="http://ghr.nlm.nih.gov/condition=adenosinedeaminasedeficiency">Adenosine deaminase deficiency - Genetics Home Reference</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=Adenosine_deaminase_deficiency&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 .navbox-subgroup{width:100%}.mw-parser-output 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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><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></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/Q1055374" class="extiw" title="d:Q1055374">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#/D81.3">D81.3</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/102700">102700</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/ddb260.htm">260</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1483/">Adenosine Deaminase Deficiency</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 data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a 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 href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-SCID</a><br /><i>autosomal:</i> <a class="mw-selflink selflink">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="Inborn_error_of_purine–pyrimidine_metabolism" 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:Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Template:Inborn errors of purine–pyrimidine metabolism"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Template talk:Inborn errors of purine–pyrimidine metabolism"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Special:EditPage/Template:Inborn errors of purine–pyrimidine metabolism"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Inborn_error_of_purine–pyrimidine_metabolism" style="font-size:114%;margin:0 4em"><a href="/wiki/Inborn_error_of_metabolism" class="mw-redirect" title="Inborn error of metabolism">Inborn error</a> of <a href="/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Inborn errors of purine–pyrimidine metabolism">purine–pyrimidine metabolism</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Purine_metabolism" title="Purine metabolism">Purine metabolism</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%">Anabolism</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/Adenylosuccinate_lyase_deficiency" title="Adenylosuccinate lyase deficiency">Adenylosuccinate lyase deficiency</a></li> <li><a href="/wiki/Adenosine_Monophosphate_Deaminase_Deficiency_type_1" class="mw-redirect" title="Adenosine Monophosphate Deaminase Deficiency type 1">Adenosine Monophosphate Deaminase Deficiency type 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nucleotide_salvage" title="Nucleotide salvage">Nucleotide salvage</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/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a>/<a href="/wiki/Hyperuricemia" title="Hyperuricemia">Hyperuricemia</a></li> <li><a href="/wiki/Adenine_phosphoribosyltransferase_deficiency" title="Adenine phosphoribosyltransferase deficiency">Adenine phosphoribosyltransferase deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Catabolism</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 class="mw-selflink selflink">Adenosine deaminase deficiency</a></li> <li><a href="/wiki/Purine_nucleoside_phosphorylase_deficiency" title="Purine nucleoside phosphorylase deficiency">Purine nucleoside phosphorylase deficiency</a></li> <li><a href="/wiki/Xanthinuria" title="Xanthinuria">Xanthinuria</a></li> <li><a href="/wiki/Gout" title="Gout">Gout</a></li> <li><a href="/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome" title="Mitochondrial neurogastrointestinal encephalopathy syndrome">Mitochondrial neurogastrointestinal encephalopathy 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/Pyrimidine_metabolism" title="Pyrimidine metabolism">Pyrimidine metabolism</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%">Anabolism</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/Orotic_aciduria" title="Orotic aciduria">Orotic aciduria</a></li> <li><a href="/wiki/Miller_syndrome" title="Miller syndrome">Miller syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Catabolism</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/Dihydropyrimidine_dehydrogenase_deficiency" title="Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></li></ul> </div></td></tr></tbody></table><div></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" 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