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</ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" 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Available in 19 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-19" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">19 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D9%81%D9%82%D8%AF_%D8%BA%D8%A7%D9%85%D8%A7%D8%BA%D9%84%D9%88%D8%A8%D9%88%D9%84%D9%8A%D9%86_%D8%A7%D9%84%D8%AF%D9%85_%D8%A7%D9%84%D9%85%D8%B1%D8%AA%D8%A8%D8%B7_%D8%A8%D8%A7%D9%84%D8%B5%D8%A8%D8%BA%D9%8A_%D8%A5%D9%83%D8%B3" title="فقد غاماغلوبولين الدم المرتبط بالصبغي إكس – Arabic" lang="ar" hreflang="ar" data-title="فقد غاماغلوبولين الدم المرتبط بالصبغي إكس" data-language-autonym="العربية" data-language-local-name="Arabic" 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/Bruton_x%C9%99st%C9%99liyi" title="Bruton xəstəliyi – Azerbaijani" lang="az" hreflang="az" data-title="Bruton xəstəliyi" 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/X-vezana_agamaglobulinemija" title="X-vezana agamaglobulinemija – Bosnian" lang="bs" hreflang="bs" data-title="X-vezana agamaglobulinemija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Agammaglobulin%C3%A8mia_lligada_al_cromosoma_X" title="Agammaglobulinèmia lligada al cromosoma X – Catalan" lang="ca" hreflang="ca" data-title="Agammaglobulinèmia lligada al cromosoma X" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/Brutonova_agamaglubulin%C3%A9mie" title="Brutonova agamaglubulinémie – Czech" lang="cs" hreflang="cs" data-title="Brutonova agamaglubulinémie" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Bruton-Syndrom" title="Bruton-Syndrom – German" lang="de" hreflang="de" data-title="Bruton-Syndrom" 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/Agammaglobulinemia_ligada_al_cromosoma_X" title="Agammaglobulinemia ligada al cromosoma X – Spanish" lang="es" hreflang="es" data-title="Agammaglobulinemia ligada al cromosoma X" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/X-rekin_lotutako_agammaglobulinemia" title="X-rekin lotutako agammaglobulinemia – Basque" lang="eu" hreflang="eu" data-title="X-rekin lotutako agammaglobulinemia" data-language-autonym="Euskara" data-language-local-name="Basque" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Agammaglobulin%C3%A9mie_li%C3%A9e_au_sexe" title="Agammaglobulinémie liée au sexe – French" lang="fr" hreflang="fr" data-title="Agammaglobulinémie liée au sexe" 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/Agammaglobulinemia_legata_al_sesso" title="Agammaglobulinemia legata al sesso – Italian" lang="it" hreflang="it" data-title="Agammaglobulinemia legata al sesso" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/XLA" title="XLA – Hebrew" lang="he" hreflang="he" data-title="XLA" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/X-gebonden_agammaglobulinemie" title="X-gebonden agammaglobulinemie – Dutch" lang="nl" hreflang="nl" data-title="X-gebonden agammaglobulinemie" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%8F%E0%AC%95%E0%AD%8D%E0%AC%B8-%E0%AC%B8%E0%AC%82%E0%AC%AF%E0%AD%81%E0%AC%95%E0%AD%8D%E0%AC%A4_%E0%AC%86%E0%AC%97%E0%AC%BE%E0%AC%AE%E0%AC%BE%E0%AC%97%E0%AD%8D%E0%AC%B2%E0%AD%8B%E0%AC%AC%E0%AD%81%E0%AC%B2%E0%AC%BF%E0%AC%A8%E0%AD%87%E0%AC%AE%E0%AC%BF%E0%AC%86" title="ଏକ୍ସ-ସଂଯୁକ୍ତ ଆଗାମାଗ୍ଲୋବୁଲିନେମିଆ – Odia" lang="or" hreflang="or" data-title="ଏକ୍ସ-ସଂଯୁକ୍ତ ଆଗାମାଗ୍ଲୋବୁଲିନେମିଆ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Bruton_kasalligi" title="Bruton kasalligi – Uzbek" lang="uz" hreflang="uz" data-title="Bruton kasalligi" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Uzbek" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Agammaglobulinemia" title="Agammaglobulinemia – Polish" lang="pl" hreflang="pl" data-title="Agammaglobulinemia" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%91%D0%BE%D0%BB%D0%B5%D0%B7%D0%BD%D1%8C_%D0%91%D1%80%D1%83%D1%82%D0%BE%D0%BD%D0%B0" title="Болезнь Брутона – Russian" lang="ru" hreflang="ru" data-title="Болезнь Брутона" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%9A%D0%BE%D0%BD%D0%B3%D0%B5%D0%BD%D0%B8%D1%82%D0%B0%D0%BB%D0%BD%D0%B0_%D0%B0%D0%B3%D0%B0%D0%BC%D0%B0%D0%B3%D0%BB%D0%BE%D0%B1%D1%83%D0%BB%D0%B8%D0%BD%D0%B5%D0%BC%D0%B8%D1%98%D0%B0_(%D0%91%D1%80%D1%83%D1%82%D0%BE%D0%BD)" title="Конгенитална агамаглобулинемија (Брутон) – Serbian" lang="sr" hreflang="sr" data-title="Конгенитална агамаглобулинемија (Брутон)" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/X-kromosombunden_agammaglobulinemi" title="X-kromosombunden agammaglobulinemi – Swedish" lang="sv" hreflang="sv" data-title="X-kromosombunden agammaglobulinemi" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%A0%E0%B8%B2%E0%B8%A7%E0%B8%B0%E0%B9%84%E0%B8%A1%E0%B9%88%E0%B8%A1%E0%B8%B5%E0%B9%81%E0%B8%81%E0%B8%A1%E0%B8%A1%E0%B8%B2%E0%B9%82%E0%B8%81%E0%B8%A5%E0%B8%9A%E0%B8%B9%E0%B8%A5%E0%B8%B4%E0%B8%99%E0%B9%83%E0%B8%99%E0%B9%80%E0%B8%A5%E0%B8%B7%E0%B8%AD%E0%B8%94%E0%B8%97%E0%B8%B5%E0%B9%88%E0%B8%96%E0%B9%88%E0%B8%B2%E0%B8%A2%E0%B8%97%E0%B8%AD%E0%B8%94%E0%B8%97%E0%B8%B2%E0%B8%87%E0%B9%82%E0%B8%84%E0%B8%A3%E0%B9%82%E0%B8%A1%E0%B9%82%E0%B8%8B%E0%B8%A1%E0%B9%80%E0%B8%9E%E0%B8%A8" title="ภาวะไม่มีแกมมาโกลบูลินในเลือดที่ถ่ายทอดทางโครโมโซมเพศ – Thai" lang="th" hreflang="th" data-title="ภาวะไม่มีแกมมาโกลบูลินในเลือดที่ถ่ายทอดทางโครโมโซมเพศ" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target"><span>ไทย</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit 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<div id="mw-content-text" 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 agammaglobulinemia</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">X-linked hypogammaglobulinemia, Bruton type agammaglobulinemia, Bruton syndrome, sex-linked agammaglobulinemia<sup id="cite_ref-Andrews_1-0" class="reference"><a href="#cite_note-Andrews-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup class="reference nowrap"><span title="Page / location: 83">: 83 </span></sup></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.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/220px-X-linked_recessive.svg.png" decoding="async" width="220" height="334" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/330px-X-linked_recessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c7/X-linked_recessive.svg/440px-X-linked_recessive.svg.png 2x" data-file-width="600" data-file-height="911" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">The disorder is passed on in an <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> pattern</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/Q283108?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 agammaglobulinemia</b> (<b>XLA</b>) is a rare genetic disorder discovered in 1952 that affects the body's ability to fight <a href="/wiki/Infection" title="Infection">infection</a>. As the form of <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">agammaglobulinemia</a> that is <a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a>, it is much more common in males. In people with XLA, the <a href="/wiki/Lymphopoiesis" title="Lymphopoiesis">white blood cell formation process</a> does not generate mature <a href="/wiki/B_cell" title="B cell">B cells</a>,<sup id="cite_ref-titleX-linked_Agammaglobulinemia:_Immunodeficiency_Disorders:_Merck_Manual_Professional_2-0" class="reference"><a href="#cite_note-titleX-linked_Agammaglobulinemia:_Immunodeficiency_Disorders:_Merck_Manual_Professional-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> which manifests as a complete or near-complete lack of proteins called <a href="/wiki/Gamma_globulin" title="Gamma globulin">gamma globulins</a>, including <a href="/wiki/Antibody" title="Antibody">antibodies</a>, in their bloodstream. B cells are part of the <a href="/wiki/Immune_system" title="Immune system">immune system</a> and normally manufacture antibodies (also called <a href="/wiki/Immunoglobulin" class="mw-redirect" title="Immunoglobulin">immunoglobulins</a>), which defend the body from infections by sustaining a <a href="/wiki/Humoral_immunity" title="Humoral immunity">humoral immunity</a> response. Patients with untreated XLA are prone to develop serious and even fatal infections. A mutation occurs at the <a href="/wiki/Bruton%27s_tyrosine_kinase" title="Bruton's tyrosine kinase">Bruton's tyrosine kinase</a> (Btk) gene that leads to a severe block in B cell development (at the pre-B cell to immature B cell stage) and a reduced immunoglobulin production in the serum. Btk is particularly responsible for mediating B cell development and maturation through a signaling effect on the B cell receptor <a href="/wiki/B_cell_receptor" class="mw-redirect" title="B cell receptor">BCR</a>. Patients typically present in early childhood with recurrent <a href="/wiki/Infection" title="Infection">infections</a>, in particular with extracellular, encapsulated <a href="/wiki/Bacteria" title="Bacteria">bacteria</a>.<sup id="cite_ref-IDF_3-0" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> XLA is deemed to have a relatively low incidence of disease, with an occurrence rate of approximately 1 in 200,000 live births<sup id="cite_ref-:0_4-0" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> and a frequency of about 1 in 100,000<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> male newborns. It has no ethnic <a href="/wiki/Genetic_predisposition" title="Genetic predisposition">predisposition</a>. XLA is treated by infusion of human antibody. Treatment with <a href="/wiki/Blood_product" title="Blood product">pooled gamma globulin</a> cannot restore a functional population of <a href="/wiki/B_cell" title="B cell">B cells</a>, but it is sufficient to reduce the severity and number of infections due to the <a href="/wiki/Passive_immunity" title="Passive immunity">passive immunity</a> granted by the exogenous antibodies.<sup id="cite_ref-IDF_3-1" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>XLA is caused by a mutation on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a> (Xq21.3-q22) of a single <a href="/wiki/Gene" title="Gene">gene</a> identified in 1993 which produces an enzyme known as <a href="/wiki/Bruton%27s_tyrosine_kinase" title="Bruton's tyrosine kinase">Bruton's tyrosine kinase</a>, or Btk.<sup id="cite_ref-IDF_3-2" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> XLA was first characterized by Dr. <a href="/wiki/Ogden_Bruton" title="Ogden Bruton">Ogden Bruton</a> in a ground-breaking research paper published in 1952 describing a boy unable to develop immunities to common childhood diseases and infections.<sup id="cite_ref-BrutonsPaper_6-0" class="reference"><a href="#cite_note-BrutonsPaper-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> It is the first known <a href="/wiki/Immune_deficiency" class="mw-redirect" title="Immune deficiency">immune deficiency</a>, and is classified with other inherited (genetic) defects of the <a href="/wiki/Immune_system" title="Immune system">immune system</a>, known as <a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">primary immunodeficiency</a> disorders. It is also classified as an <a href="/wiki/Inborn_error_of_immunity" class="mw-redirect" title="Inborn error of immunity">inborn error of immunity</a> based on it being an immunological disorder caused by a defect in a single gene.<sup id="cite_ref-pmid37454339_7-0" class="reference"><a href="#cite_note-pmid37454339-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </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=X-linked_agammaglobulinemia&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Affects males 50% of the time if mother is a carrier for the gene. Children are generally asymptomatic until 6–9 months of age when maternal IgG decreases. Present with recurrent infections with Streptococcus pneumoniae, Haemophilus influenzae, Mycoplasma pneumoniae, hepatitis virus, and enterovirus CNS infections.<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> Examination shows lymphoid hypoplasia (tonsils and adenoids, no splenomegaly or lymphadenopathy). There is significant decrease in all immunoglobulins.<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. (July 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_agammaglobulinemia&action=edit&section=2" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Human_male_karyotpe_high_resolution_-_X_chromosome_cropped.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/b/bf/Human_male_karyotpe_high_resolution_-_X_chromosome_cropped.png" decoding="async" width="37" height="100" class="mw-file-element" data-file-width="37" data-file-height="100" /></a><figcaption>X-chromosome</figcaption></figure> <p>Most antibodies are gamma globulins. Antibodies are made mainly by <a href="/wiki/Plasma_cell" title="Plasma cell">plasma cells</a>, which are daughter cells of the B cell line. The Btk enzyme plays an essential role in the maturation of <a href="/wiki/B_cell" title="B cell">B cells</a> in the <a href="/wiki/Bone_marrow" title="Bone marrow">bone marrow</a>, and when mutated, immature pro-B lymphocytes are unable to develop into pre-B lymphocytes, which normally develop into mature (naive) B cells that leave the bone marrow into the blood stream.<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. (July 2021)">citation needed</span></a></i>]</sup> </p><p>The disorder is inherited in an <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> fashion (as the gene linked to it is on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a>) and is almost entirely limited to the sons of <a href="/wiki/Symptom#Types" class="mw-redirect" title="Symptom">asymptomatic</a> female <a href="/wiki/Genetic_carrier" class="mw-redirect" title="Genetic carrier">carriers</a>.<sup id="cite_ref-IDF_3-3" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> This is because males have only one copy of the X chromosome, while females have two copies; one normal copy of an X chromosome can compensate for mutations in the other X chromosome, so they are less likely to be symptomatic.<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. (July 2021)">citation needed</span></a></i>]</sup> </p><p>There is 30–50% chance of XLA patients having a positive family history of genetic inheritance. The rest of the cases occur as random mutations.<sup id="cite_ref-:0_4-1" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> If a carrier female gives birth to a male child, there is a 50% chance that the male will have XLA. A carrier female has a 25% chance overall of giving birth to an affected male child. An XLA patient will pass on the gene, and all of his daughters will be XLA carriers, meaning that any male grandchildren from an XLA patient's daughters have a 50% chance of inheriting XLA. A female XLA patient can arise only as the child of an XLA patient and a carrier mother. XLA can also rarely result from a spontaneous mutation in the <a href="/wiki/Fetus" title="Fetus">fetus</a> of a non-carrier mother.<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. (July 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_agammaglobulinemia&action=edit&section=3" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>XLA diagnosis usually begins due to a history of recurrent infections, mostly in the <a href="/wiki/Respiratory_tract" title="Respiratory tract">respiratory tract</a>, through childhood. This is due to humoral immunodeficiency.<sup id="cite_ref-:0_4-2" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> The diagnosis is probable when blood tests show the complete lack of circulating B cells (determined by the B cell marker <a href="/wiki/CD19" title="CD19">CD19</a> and/or <a href="/wiki/CD20" title="CD20">CD20</a>), as well as low levels of all <a href="/wiki/Antibody" title="Antibody">antibody</a> classes, including <a href="/wiki/IgG" class="mw-redirect" title="IgG">IgG</a>, <a href="/wiki/IgA" class="mw-redirect" title="IgA">IgA</a>, <a href="/wiki/IgM" class="mw-redirect" title="IgM">IgM</a>, <a href="/wiki/IgE" class="mw-redirect" title="IgE">IgE</a> and <a href="/wiki/IgD" class="mw-redirect" title="IgD">IgD</a>.<sup id="cite_ref-IDF_3-4" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>When XLA is suspected, it is possible to do a <a href="/wiki/Western_Blot" class="mw-redirect" title="Western Blot">Western Blot</a> test to determine whether the <a href="/wiki/Bruton%27s_tyrosine_kinase" title="Bruton's tyrosine kinase">Btk</a> protein is being expressed. Results of a genetic blood test confirm the diagnosis and will identify the specific Btk mutation,<sup id="cite_ref-IDF_3-5" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> however its cost prohibits its use in routine screening for all pregnancies. Women with an XLA patient in their family should seek genetic counseling before pregnancy. Although the symptoms of a XLA and other primary immune diseases (PID) include repeated and often severe infections, the average time for a diagnosis of a PID can be up to 10 years.<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. (August 2016)">citation needed</span></a></i>]</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=X-linked_agammaglobulinemia&action=edit&section=4" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The most common treatment for XLA is an <a href="/wiki/Intravenous" class="mw-redirect" title="Intravenous">intravenous</a> infusion of <a href="/wiki/Immunoglobulin" class="mw-redirect" title="Immunoglobulin">immunoglobulin</a> (<a href="/wiki/IVIg" class="mw-redirect" title="IVIg">IVIg</a>, human IgG antibodies) every week, for life. IVIg is a human product extracted and pooled from thousands of <a href="/wiki/Blood" title="Blood">blood</a> donations. IVIg does not cure XLA but increases the patient's lifespan and quality of life, by generating <a href="/wiki/Passive_immunity" title="Passive immunity">passive immunity</a>, and boosting the <a href="/wiki/Immune_system" title="Immune system">immune system</a>.<sup id="cite_ref-IDF_3-6" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> With treatment, the number and severity of infections is reduced. With IVIg, XLA patients may live a relatively healthy life. A patient should attempt reaching a state where his <a href="/wiki/IgG" class="mw-redirect" title="IgG">IgG</a> blood count exceeds 800 mg/kg. The dose is based on the patient's weight and IgG blood-count.<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. (July 2021)">citation needed</span></a></i>]</sup> </p><p>Muscle injections of immunoglobulin (IMIg) were common before IVIg was prevalent, but are less effective and much more painful; hence, IMIg is now uncommon. <a href="/wiki/Injection_(medicine)" title="Injection (medicine)">Subcutaneous</a> treatment (SCIg) was recently approved by the <a href="/wiki/Food_and_Drug_Administration_(United_States)" class="mw-redirect" title="Food and Drug Administration (United States)">U.S. Food and Drug Administration</a> (FDA), which is recommended in cases of severe adverse reactions to the IVIg treatment.<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. (July 2021)">citation needed</span></a></i>]</sup> </p><p><a href="/wiki/Antibiotics" class="mw-redirect" title="Antibiotics">Antibiotics</a> are another common supplementary treatment. Local antibiotic treatment (drops, lotions) are preferred over systemic treatment (pills) for long-term treatment, if possible. One of the future prospects of XLA treatment is <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>, which could potentially cure XLA. Gene therapy technology is still in its infancy and may cause severe complications such as cancer and even death. Moreover, the long-term success and complications of this treatment are, as yet, unknown.<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. (August 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Other_considerations">Other considerations</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=X-linked_agammaglobulinemia&action=edit&section=5" title="Edit section: Other considerations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>It is not recommended and dangerous for XLA patients to receive live attenuated <a href="/wiki/Vaccines" class="mw-redirect" title="Vaccines">vaccines</a> such as live <a href="/wiki/Polio_vaccine" title="Polio vaccine">polio</a>, or the <a href="/wiki/Measles" title="Measles">measles</a>, <a href="/wiki/Mumps" title="Mumps">mumps</a>, <a href="/wiki/Rubella" title="Rubella">rubella</a> (<a href="/wiki/MMR_vaccine" title="MMR vaccine">MMR vaccine</a>).<sup id="cite_ref-IDF_3-7" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Special emphasis is given to avoiding the oral live attenuated <a href="/wiki/Polio#Sabin's_"oral_polio_vaccine"" title="Polio">SABIN-type polio vaccine</a> that has been reported to cause polio to XLA patients. Furthermore, it is not known if active <a href="/wiki/Vaccines" class="mw-redirect" title="Vaccines">vaccines</a> in general have any beneficial effect on XLA patients as they lack normal ability to maintain <a href="/wiki/Immune_memory" class="mw-redirect" title="Immune memory">immune memory</a>.<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. (July 2021)">citation needed</span></a></i>]</sup> </p><p>XLA patients are specifically susceptible to viruses of the <a href="/wiki/Enterovirus" title="Enterovirus">Enterovirus</a> family, and mostly to: <a href="/wiki/Polio_virus" class="mw-redirect" title="Polio virus">polio virus</a>, <a href="/wiki/Coxsackie_virus" class="mw-redirect" title="Coxsackie virus">coxsackie virus</a> (hand, foot, and mouth disease) and <a href="/wiki/Echovirus" title="Echovirus">Echoviruses</a>. These may cause severe <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a> conditions as chronic <a href="/wiki/Encephalitis" title="Encephalitis">encephalitis</a>, <a href="/wiki/Meningitis" title="Meningitis">meningitis</a> and death. An experimental anti-viral agent, <a href="/wiki/Pleconaril" title="Pleconaril">pleconaril</a>, is active against <a href="/wiki/Picornaviruses" class="mw-redirect" title="Picornaviruses">picornaviruses</a>. XLA patients, however, are apparently immune to the <a href="/wiki/Epstein-Barr_virus" class="mw-redirect" title="Epstein-Barr virus">Epstein-Barr virus</a> (EBV), as they lack mature <a href="/wiki/B_cells" class="mw-redirect" title="B cells">B cells</a> (and so HLA co-receptors) needed for the viral infection.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Patients with XLA are also more likely to have a history of septic arthritis.<sup id="cite_ref-:0_4-3" class="reference"><a href="#cite_note-:0-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p>It is not known if XLA patients are able to generate an <a href="/wiki/Allergic_reaction" class="mw-redirect" title="Allergic reaction">allergic reaction</a>, as they lack functional <a href="/wiki/IgE" class="mw-redirect" title="IgE">IgE</a> antibodies. There is no special hazard for XLA patients in dealing with pets or outdoor activities.<sup id="cite_ref-IDF_3-8" class="reference"><a href="#cite_note-IDF-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Unlike in other primary <a href="/wiki/Immunodeficiencies" class="mw-redirect" title="Immunodeficiencies">immunodeficiencies</a> XLA patients are at no greater risk for developing <a href="/wiki/Autoimmune" class="mw-redirect" title="Autoimmune">autoimmune</a> illnesses. </p><p>Agammaglobulinemia (XLA) is similar to the primary immunodeficiency disorder <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID</a>), and their clinical conditions and treatment are almost identical. However, while XLA is a congenital disorder, with known genetic causes, CVID may occur in adulthood and its causes are not yet understood. In addition, to X-linked agammaglobulinemia a couple of autosomal recessive agammaglobulinemia gene mutations have been described including mutations in IGHM,<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> IGLL1,<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> CD79A/B,<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><sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> BLNK <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> and deletion of the deletion of the terminal 14q32.33 chromosom.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p><p>XLA was also historically mistaken as <a href="/wiki/Severe_Combined_Immunodeficiency" class="mw-redirect" title="Severe Combined Immunodeficiency">Severe Combined Immunodeficiency</a> (SCID), a much more severe immune deficiency ("Bubble boys").A strain of <a href="/wiki/Laboratory_mouse" title="Laboratory mouse">laboratory mouse</a>, XID, is used to study XLA. These mice have a mutated version of the mouse Btk gene, and exhibit a similar, yet milder, immune deficiency as in XLA.<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. (August 2016)">citation needed</span></a></i>]</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_agammaglobulinemia&action=edit&section=6" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a> (CVID)</li> <li><a href="/wiki/Intravenous_immunoglobulin" class="mw-redirect" title="Intravenous immunoglobulin">Intravenous immunoglobulin</a> (IVIg)</li></ul> <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_agammaglobulinemia&action=edit&section=7" 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-Andrews-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-Andrews_1-0">^</a></b></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="CITEREFJames,_William_D.Berger,_Timothy_G.2006" class="citation book cs1">James, William D.; Berger, Timothy G.; et al. (2006). <i>Andrews' Diseases of the Skin: clinical Dermatology</i>. Saunders Elsevier. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/0-7216-2921-0" title="Special:BookSources/0-7216-2921-0"><bdi>0-7216-2921-0</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Andrews%27+Diseases+of+the+Skin%3A+clinical+Dermatology&rft.pub=Saunders+Elsevier&rft.date=2006&rft.isbn=0-7216-2921-0&rft.au=James%2C+William+D.&rft.au=Berger%2C+Timothy+G.&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-titleX-linked_Agammaglobulinemia:_Immunodeficiency_Disorders:_Merck_Manual_Professional-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-titleX-linked_Agammaglobulinemia:_Immunodeficiency_Disorders:_Merck_Manual_Professional_2-0">^</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://www.merck.com/mmpe/sec13/ch164/ch164o.html">"X-linked Agammaglobulinemia: Immunodeficiency Disorders: Merck Manual Professional"</a><span class="reference-accessdate">. Retrieved <span class="nowrap">2008-03-01</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=X-linked+Agammaglobulinemia%3A+Immunodeficiency+Disorders%3A+Merck+Manual+Professional&rft_id=http%3A%2F%2Fwww.merck.com%2Fmmpe%2Fsec13%2Fch164%2Fch164o.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-IDF-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-IDF_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-IDF_3-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-IDF_3-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-IDF_3-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-IDF_3-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-IDF_3-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-IDF_3-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-IDF_3-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-IDF_3-8"><sup><i><b>i</b></i></sup></a></span> <span class="reference-text"><a rel="nofollow" class="external text" href="http://www.immunedisease.com/US/patients/IDF/agamma.html">X-Linked Agammaglobulinemia</a> Patient and Family Handbook for The Primary Immune Diseases. Third Edition. 2001. Published by the Immune Deficiency Foundation</span> </li> <li id="cite_note-:0-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-:0_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:0_4-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:0_4-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-:0_4-3"><sup><i><b>d</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFChunLeeSongLinton2008" class="citation journal cs1">Chun, Jin-Kyong; Lee, Taek Jin; Song, Jae Woo; Linton, John A; Kim, Dong Soo (2008-02-29). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615253">"Analysis of Clinical Presentations of Bruton Disease: A Review of 20 Years of Accumulated Data from Pediatric Patients at Severance Hospital"</a>. <i>Yonsei Medical Journal</i>. <b>49</b> (1): 28–36. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.3349%2Fymj.2008.49.1.28">10.3349/ymj.2008.49.1.28</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0513-5796">0513-5796</a>. <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" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2615253">2615253</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/18306466">18306466</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Yonsei+Medical+Journal&rft.atitle=Analysis+of+Clinical+Presentations+of+Bruton+Disease%3A+A+Review+of+20+Years+of+Accumulated+Data+from+Pediatric+Patients+at+Severance+Hospital&rft.volume=49&rft.issue=1&rft.pages=28-36&rft.date=2008-02-29&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2615253%23id-name%3DPMC&rft.issn=0513-5796&rft_id=info%3Apmid%2F18306466&rft_id=info%3Adoi%2F10.3349%2Fymj.2008.49.1.28&rft.aulast=Chun&rft.aufirst=Jin-Kyong&rft.au=Lee%2C+Taek+Jin&rft.au=Song%2C+Jae+Woo&rft.au=Linton%2C+John+A&rft.au=Kim%2C+Dong+Soo&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2615253&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-5">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMahmoudi2007" class="citation book cs1">Mahmoudi, Massoud (2007). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=Iq2Pkubq2A0C&q=X-linked+agammaglobulinemia+100,000&pg=PA267"><i>Allergy and Asthma: Practical Diagnosis and Management</i></a>. McGraw-Hill Professional. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-07-147173-2" title="Special:BookSources/978-0-07-147173-2"><bdi>978-0-07-147173-2</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Allergy+and+Asthma%3A+Practical+Diagnosis+and+Management&rft.pub=McGraw-Hill+Professional&rft.date=2007&rft.isbn=978-0-07-147173-2&rft.aulast=Mahmoudi&rft.aufirst=Massoud&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3DIq2Pkubq2A0C%26q%3DX-linked%2Bagammaglobulinemia%2B100%2C000%26pg%3DPA267&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-BrutonsPaper-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-BrutonsPaper_6-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBruton_OC1952" class="citation journal cs1">Bruton OC (1952). 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"An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia". <i>Journal of Clinical Immunology</i>. <b>43</b> (8): 1827–1839. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs10875-023-01551-2">10.1007/s10875-023-01551-2</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/37454339">37454339</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Clinical+Immunology&rft.atitle=An+International+Survey+of+Allogeneic+Hematopoietic+Cell+Transplantation+for+X-Linked+Agammaglobulinemia&rft.volume=43&rft.issue=8&rft.pages=1827-1839&rft.date=2023-11&rft_id=info%3Adoi%2F10.1007%2Fs10875-023-01551-2&rft_id=info%3Apmid%2F37454339&rft.aulast=Nishimura&rft.aufirst=A&rft.au=Uppuluri%2C+R&rft.au=Raj%2C+R&rft.au=Swaminathan%2C+VV&rft.au=Cheng%2C+Y&rft.au=Abu-Arja%2C+RF&rft.au=Fu%2C+B&rft.au=Laberko%2C+A&rft.au=Albert%2C+MH&rft.au=Hauck%2C+F&rft.au=Bucciol%2C+G&rft.au=Bigley%2C+V&rft.au=Elcombe%2C+S&rft.au=Kharya%2C+G&rft.au=Pronk%2C+CJ&rft.au=Wehr%2C+C&rft.au=Neven%2C+B&rft.au=Warnatz%2C+K&rft.au=Meyts%2C+I&rft.au=Morio%2C+T&rft.au=Gennery%2C+AR&rft.au=Kanegane%2C+H&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-8">^</a></b></span> <span class="reference-text">Grammatikos Alexandros, Donati Matthew, Johnston Sarah L., Gompels Mark M. Peripheral B Cell Deficiency and Predisposition to Viral Infections: The Paradigm of Immune Deficiencies. Frontiers in Immunology (12)2021 <a rel="nofollow" class="external free" href="https://www.frontiersin.org/articles/10.3389/fimmu.2021.731643">https://www.frontiersin.org/articles/10.3389/fimmu.2021.731643</a> DOI=10.3389/fimmu.2021.731643 </span> </li> <li id="cite_note-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-9">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFFaulknerBurrowsKhannaMoss1999" class="citation journal cs1">Faulkner GC, Burrows SR, Khanna R, Moss DJ, Bird AG, Crawford DH (February 1999). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC103980">"X-Linked agammaglobulinemia patients are not infected with Epstein-Barr virus: implications for the biology of the virus"</a>. <i>Journal of Virology</i>. <b>73</b> (2): 1555–64. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1128%2FJVI.73.2.1555-1564.1999">10.1128/JVI.73.2.1555-1564.1999</a>. <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" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC103980">103980</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/9882361">9882361</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Virology&rft.atitle=X-Linked+agammaglobulinemia+patients+are+not+infected+with+Epstein-Barr+virus%3A+implications+for+the+biology+of+the+virus&rft.volume=73&rft.issue=2&rft.pages=1555-64&rft.date=1999-02&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC103980%23id-name%3DPMC&rft_id=info%3Apmid%2F9882361&rft_id=info%3Adoi%2F10.1128%2FJVI.73.2.1555-1564.1999&rft.aulast=Faulkner&rft.aufirst=GC&rft.au=Burrows%2C+SR&rft.au=Khanna%2C+R&rft.au=Moss%2C+DJ&rft.au=Bird%2C+AG&rft.au=Crawford%2C+DH&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC103980&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-10">^</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="https://omim.org/entry/601495">"OMIM Entry - # 601495 - AGAMMAGLOBULINEMIA 1, AUTOSOMAL RECESSIVE; AGM1"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=OMIM+Entry+-+%23+601495+-+AGAMMAGLOBULINEMIA+1%2C+AUTOSOMAL+RECESSIVE%3B+AGM1&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F601495&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-11">^</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="https://omim.org/entry/613500">"OMIM Entry - # 613500 - AGAMMAGLOBULINEMIA 2, AUTOSOMAL RECESSIVE; AGM2"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=OMIM+Entry+-+%23+613500+-+AGAMMAGLOBULINEMIA+2%2C+AUTOSOMAL+RECESSIVE%3B+AGM2&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F613500&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-12"><span class="mw-cite-backlink"><b><a href="#cite_ref-12">^</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="https://omim.org/entry/613501">"OMIM Entry - # 613501 - AGAMMAGLOBULINEMIA 3, AUTOSOMAL RECESSIVE; AGM3"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=OMIM+Entry+-+%23+613501+-+AGAMMAGLOBULINEMIA+3%2C+AUTOSOMAL+RECESSIVE%3B+AGM3&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F613501&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-13"><span class="mw-cite-backlink"><b><a href="#cite_ref-13">^</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="https://omim.org/entry/612692">"OMIM Entry - # 612692 - AGAMMAGLOBULINEMIA 6, AUTOSOMAL RECESSIVE; AGM6"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=OMIM+Entry+-+%23+612692+-+AGAMMAGLOBULINEMIA+6%2C+AUTOSOMAL+RECESSIVE%3B+AGM6&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F612692&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-14"><span class="mw-cite-backlink"><b><a href="#cite_ref-14">^</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="https://omim.org/entry/613502">"OMIM Entry - # 613502 - AGAMMAGLOBULINEMIA 4, AUTOSOMAL RECESSIVE; AGM4"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=OMIM+Entry+-+%23+613502+-+AGAMMAGLOBULINEMIA+4%2C+AUTOSOMAL+RECESSIVE%3B+AGM4&rft_id=https%3A%2F%2Fomim.org%2Fentry%2F613502&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-15"><span class="mw-cite-backlink"><b><a href="#cite_ref-15">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGeier2017" class="citation journal cs1">Geier, Christoph (October 2017). <a rel="nofollow" class="external text" href="https://www.sciencedirect.com/science/article/abs/pii/S1521661617304709">"Terminal 14q32.33 deletion as a novel cause of agammaglobulinemia"</a>. <i>Clinical Immunology</i>. <b>183</b>: 41–45. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.clim.2017.07.003">10.1016/j.clim.2017.07.003</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/28705765">28705765</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Clinical+Immunology&rft.atitle=Terminal+14q32.33+deletion+as+a+novel+cause+of+agammaglobulinemia&rft.volume=183&rft.pages=41-45&rft.date=2017-10&rft_id=info%3Adoi%2F10.1016%2Fj.clim.2017.07.003&rft_id=info%3Apmid%2F28705765&rft.aulast=Geier&rft.aufirst=Christoph&rft_id=https%3A%2F%2Fwww.sciencedirect.com%2Fscience%2Farticle%2Fabs%2Fpii%2FS1521661617304709&rfr_id=info%3Asid%2Fen.wikipedia.org%3AX-linked+agammaglobulinemia" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span 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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/Q283108" class="extiw" title="d:Q283108">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#/D80.0">D80.0</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=279.04">279.04</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/300300">300300</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=C537409,">C537409 C537409, C537409</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/ddb1728.htm">1728</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/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001307.htm">001307</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/ped/294-overview">ped/294</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/derm/topic858.htm#">derm/858</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=xla">GeneReviews/NCBI/NIH/UW entry on X-Linked Agammaglobulinemia</a></li></ul> <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 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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 class="mw-selflink selflink">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 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 href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></li> <li><a class="mw-selflink selflink">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="Deficiencies_of_intracellular_signaling_peptides_and_proteins" 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:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Template:Deficiencies of intracellular signaling peptides and proteins"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Template talk:Deficiencies of intracellular signaling peptides and proteins"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Deficiencies_of_intracellular_signaling_peptides_and_proteins" title="Special:EditPage/Template:Deficiencies of intracellular signaling peptides and proteins"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Deficiencies_of_intracellular_signaling_peptides_and_proteins" style="font-size:114%;margin:0 4em">Deficiencies of intracellular signaling peptides and proteins</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/GTP-binding_protein_regulators" title="GTP-binding protein regulators">GTP-binding protein regulators</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/GTPase-activating_protein" title="GTPase-activating protein">GTPase-activating protein</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/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis type I</a></li> <li><a href="/wiki/Watson_syndrome" title="Watson syndrome">Watson syndrome</a></li> <li><a href="/wiki/Tuberous_sclerosis" title="Tuberous sclerosis">Tuberous sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanine_nucleotide_exchange_factor" title="Guanine nucleotide exchange factor">Guanine nucleotide<br />exchange factor</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/Marinesco%E2%80%93Sj%C3%B6gren_syndrome" title="Marinesco–Sjögren syndrome">Marinesco–Sjögren syndrome</a></li> <li><a href="/wiki/Aarskog%E2%80%93Scott_syndrome" title="Aarskog–Scott syndrome">Aarskog–Scott syndrome</a></li> <li><a href="/wiki/Juvenile_primary_lateral_sclerosis" title="Juvenile primary lateral sclerosis">Juvenile primary lateral sclerosis</a></li> <li><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability 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/G_protein" title="G protein">G protein</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/Heterotrimeric_G_protein" title="Heterotrimeric G protein">Heterotrimeic</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/CAMP-dependent_pathway" title="CAMP-dependent pathway">cAMP</a>/<a href="/wiki/GNAS_complex_locus" title="GNAS complex locus">GNAS1</a>: <a href="/wiki/Pseudopseudohypoparathyroidism" title="Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></li> <li><a href="/wiki/Progressive_osseous_heteroplasia" title="Progressive osseous heteroplasia">Progressive osseous heteroplasia</a></li> <li><a href="/wiki/Pseudohypoparathyroidism" title="Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></li> <li><a href="/wiki/Albright%27s_hereditary_osteodystrophy" title="Albright's hereditary osteodystrophy">Albright's hereditary osteodystrophy</a></li> <li><a href="/wiki/McCune%E2%80%93Albright_syndrome" title="McCune–Albright syndrome">McCune–Albright syndrome</a></li> <li><a href="/wiki/Congenital_generalized_lipodystrophy" title="Congenital generalized lipodystrophy">CGL 2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Small_GTPase" title="Small GTPase">Monomeric</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>RAS: <i><a href="/wiki/HRAS" title="HRAS">HRAS</a></i> <ul><li><a href="/wiki/Costello_syndrome" title="Costello syndrome">Costello syndrome</a></li></ul></li> <li><i><a href="/wiki/KRAS" title="KRAS">KRAS</a></i> <ul><li><a href="/wiki/Noonan_syndrome" title="Noonan syndrome">Noonan syndrome 3</a></li> <li><a href="/wiki/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">KRAS Cardiofaciocutaneous syndrome</a></li></ul></li></ul> <ul><li>RAB: <i><a href="/wiki/RAB7A" title="RAB7A">RAB7</a></i> <ul><li><a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease</a></li></ul></li> <li><i><a href="/wiki/RAB23" title="RAB23">RAB23</a></i> <ul><li><a href="/wiki/Carpenter_syndrome" title="Carpenter syndrome">Carpenter syndrome</a></li></ul></li> <li><i><a href="/wiki/RAB27" title="RAB27">RAB27</a></i> <ul><li><a href="/wiki/Griscelli_syndrome_type_2" title="Griscelli syndrome type 2">Griscelli syndrome type 2</a></li></ul></li></ul> <ul><li>RHO: <i><a href="/wiki/RAC2" title="RAC2">RAC2</a></i> <ul><li><a href="/wiki/Neutrophil_immunodeficiency_syndrome" title="Neutrophil immunodeficiency syndrome">Neutrophil immunodeficiency syndrome</a></li></ul></li></ul> <ul><li><a href="/wiki/ADP_ribosylation_factor" title="ADP ribosylation factor">ARF</a>: <i><a href="/wiki/SAR1B" class="mw-redirect" title="SAR1B">SAR1B</a></i> <ul><li><a href="/wiki/Chylomicron_retention_disease" title="Chylomicron retention disease">Chylomicron retention disease</a></li></ul></li> <li><i><a href="/wiki/ARL13B" title="ARL13B">ARL13B</a></i> <ul><li><a href="/wiki/Joubert_syndrome" title="Joubert syndrome">Joubert syndrome 8</a></li></ul></li> <li><i><a href="/wiki/ARL6" title="ARL6">ARL6</a></i> <ul><li><a href="/wiki/Bardet%E2%80%93Biedl_syndrome" title="Bardet–Biedl syndrome">Bardet–Biedl syndrome 3</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Mitogen-activated_protein_kinase" title="Mitogen-activated protein kinase">MAP kinase</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/Cardiofaciocutaneous_syndrome" title="Cardiofaciocutaneous syndrome">Cardiofaciocutaneous syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other <a href="/wiki/Kinase" title="Kinase">kinase</a>/<a href="/wiki/Phosphatase" title="Phosphatase">phosphatase</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/Non-receptor_tyrosine_kinase" title="Non-receptor tyrosine kinase">Tyrosine kinase</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/Bruton%27s_tyrosine_kinase" title="Bruton's tyrosine kinase">BTK</a></i> <ul><li><a class="mw-selflink selflink">X-linked agammaglobulinemia</a></li></ul></li> <li><i><a href="/wiki/ZAP70" title="ZAP70">ZAP70</a></i> <ul><li><a href="/wiki/ZAP70_deficiency" title="ZAP70 deficiency">ZAP70 deficiency</a></li></ul></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">Serine/threonine<br />kinase</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/RPS6KA3" title="RPS6KA3">RPS6KA3</a></i> <ul><li><a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin-Lowry syndrome</a></li></ul></li> <li><i><a href="/wiki/CHEK2" title="CHEK2">CHEK2</a></i> <ul><li><a href="/wiki/Li%E2%80%93Fraumeni_syndrome" title="Li–Fraumeni syndrome">Li–Fraumeni syndrome 2</a></li></ul></li> <li><i><a href="/wiki/IKBKG" title="IKBKG">IKBKG</a></i> <ul><li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li></ul></li> <li><i><a href="/wiki/STK11" title="STK11">STK11</a></i> <ul><li><a href="/wiki/Peutz%E2%80%93Jeghers_syndrome" title="Peutz–Jeghers syndrome">Peutz–Jeghers syndrome</a></li></ul></li> <li><a href="/wiki/Myotonin-protein_kinase" title="Myotonin-protein kinase">DMPK</a> <ul><li><a href="/wiki/Myotonic_dystrophy" title="Myotonic dystrophy">Myotonic dystrophy 1</a></li></ul></li> <li><i><a href="/wiki/Ataxia_telangiectasia_and_Rad3_related" title="Ataxia telangiectasia and Rad3 related">ATR</a></i> <ul><li><a href="/wiki/Seckel_syndrome" title="Seckel syndrome">Seckel syndrome 1</a></li></ul></li> <li><i><a href="/wiki/Rhodopsin_kinase" title="Rhodopsin kinase">GRK1</a></i> <ul><li><a href="/wiki/Oguchi_disease" title="Oguchi disease">Oguchi disease 2</a></li></ul></li> <li><i><a href="/wiki/WNK4" title="WNK4">WNK4</a></i>/<i><a href="/wiki/WNK1" title="WNK1">WNK1</a></i> <ul><li><a href="/wiki/Pseudohypoaldosteronism" title="Pseudohypoaldosteronism">Pseudohypoaldosteronism 2</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Protein_tyrosine_phosphatase" title="Protein tyrosine phosphatase">Tyrosine<br /> phosphatase</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/PTEN_(gene)" title="PTEN (gene)">PTEN</a></i> <ul><li><a href="/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome" title="Bannayan–Riley–Ruvalcaba syndrome">Bannayan–Riley–Ruvalcaba syndrome</a></li> <li><a href="/wiki/Lhermitte%E2%80%93Duclos_disease" title="Lhermitte–Duclos disease">Lhermitte–Duclos disease</a></li> <li><a href="/wiki/Cowden_syndrome" title="Cowden syndrome">Cowden syndrome</a></li> <li><a href="/wiki/Proteus-like_syndrome" title="Proteus-like syndrome">Proteus-like syndrome</a></li></ul></li> <li><i><a href="/wiki/Myotubularin_1" title="Myotubularin 1">MTM1</a></i> <ul><li><a href="/wiki/X-linked_myotubular_myopathy" title="X-linked myotubular myopathy">X-linked myotubular myopathy</a></li></ul></li> <li><i><a href="/wiki/PTPN11" title="PTPN11">PTPN11</a></i> <ul><li><a href="/wiki/Noonan_syndrome" title="Noonan syndrome">Noonan syndrome 1</a></li> <li><a href="/wiki/LEOPARD_syndrome" class="mw-redirect" title="LEOPARD syndrome">LEOPARD syndrome</a></li> <li><a href="/wiki/Metachondromatosis" title="Metachondromatosis">Metachondromatosis</a></li></ul></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Signal_transducing_adaptor_protein" title="Signal transducing adaptor protein">Signal transducing adaptor proteins</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/EDARADD" title="EDARADD">EDARADD</a></i> <ul><li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDARADD Hypohidrotic ectodermal dysplasia</a></li></ul></li> <li><i><a href="/wiki/SH3BP2" title="SH3BP2">SH3BP2</a></i> <ul><li><a href="/wiki/Cherubism" title="Cherubism">Cherubism</a></li></ul></li> <li><i><a href="/wiki/LDB3" title="LDB3">LDB3</a></i> <ul><li><a href="/wiki/Zaspopathy" title="Zaspopathy">Zaspopathy</a></li></ul></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-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Merlin_(protein)" title="Merlin (protein)">NF2</a></i> <ul><li><a href="/wiki/Neurofibromatosis_type_II" title="Neurofibromatosis type II">Neurofibromatosis type II</a></li></ul></li> <li><i><a href="/wiki/Notch_3" class="mw-redirect" title="Notch 3">Notch 3</a></i> <ul><li><a href="/wiki/CADASIL" title="CADASIL">CADASIL</a></li></ul></li> <li><i><a href="/wiki/PRKAR1A" title="PRKAR1A">PRKAR1A</a></i> <ul><li><a href="/wiki/Carney_complex" title="Carney complex">Carney complex</a></li></ul></li> <li><i><a href="/wiki/PRKAG2" title="PRKAG2">PRKAG2</a></i> <ul><li><a href="/wiki/Wolff%E2%80%93Parkinson%E2%80%93White_syndrome" title="Wolff–Parkinson–White syndrome">Wolff–Parkinson–White syndrome</a></li></ul></li> <li><i><a href="/wiki/PRKCSH" title="PRKCSH">PRKCSH</a></i> <ul><li><a href="/wiki/Polycystic_liver_disease" title="Polycystic liver disease">PRKCSH Polycystic liver disease</a></li></ul></li> <li><i><a href="/wiki/XIAP" title="XIAP">XIAP</a></i> <ul><li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">XIAP2</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also <a href="/wiki/Template:Intracellular_signaling_peptides_and_proteins" title="Template:Intracellular signaling peptides and proteins">intracellular signaling peptides and proteins</a></i></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: 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