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subsection</span> </button> <ul id="toc-Signs_and_complications-sublist" class="vector-toc-list"> <li id="toc-Infectious_complications" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Infectious_complications"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Infectious complications</span> </div> </a> <ul id="toc-Infectious_complications-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Autoimmune_disorders" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Autoimmune_disorders"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Autoimmune disorders</span> </div> </a> <ul id="toc-Autoimmune_disorders-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Malignancy_and_CVID" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Malignancy_and_CVID"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.3</span> <span>Malignancy and CVID</span> </div> </a> <ul id="toc-Malignancy_and_CVID-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Enteropathy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Enteropathy"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>Enteropathy</span> </div> </a> <ul id="toc-Enteropathy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Other_complications" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Other_complications"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.5</span> <span>Other complications</span> </div> </a> <ul id="toc-Other_complications-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Pathogenesis_of_CVID" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Pathogenesis_of_CVID"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Pathogenesis of CVID</span> </div> </a> <button aria-controls="toc-Pathogenesis_of_CVID-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Pathogenesis of CVID subsection</span> </button> <ul id="toc-Pathogenesis_of_CVID-sublist" class="vector-toc-list"> <li id="toc-Genetic_defects" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Genetic_defects"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span>Genetic defects</span> </div> </a> <ul id="toc-Genetic_defects-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epigenetic_factors" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Epigenetic_factors"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.2</span> <span>Epigenetic factors</span> </div> </a> <ul id="toc-Epigenetic_factors-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Immune_cell_abnormalities" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Immune_cell_abnormalities"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.3</span> <span>Immune cell abnormalities</span> </div> </a> <ul id="toc-Immune_cell_abnormalities-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Diagnosis</span> </div> </a> <button aria-controls="toc-Diagnosis-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Diagnosis subsection</span> </button> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> <li id="toc-Types" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Types"> <div class="vector-toc-text"> <span class="vector-toc-numb">3.1</span> <span>Types</span> </div> </a> <ul id="toc-Types-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Treatment</span> </div> </a> <ul id="toc-Treatment-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Research" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Research"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Research</span> </div> </a> <ul id="toc-Research-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </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">9</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" class="vector-dropdown-label cdx-button cdx-button--fake-button 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class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Obi%C4%8Dna_varijabilna_imunodeficijencija" title="Obična varijabilna imunodeficijencija – Bosnian" lang="bs" hreflang="bs" data-title="Obična varijabilna imunodeficijencija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Variables_Immundefektsyndrom" title="Variables Immundefektsyndrom – German" lang="de" hreflang="de" data-title="Variables Immundefektsyndrom" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Inmunodeficiencia_com%C3%BAn_variable" title="Inmunodeficiencia común variable – Spanish" lang="es" hreflang="es" data-title="Inmunodeficiencia común variable" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%86%D9%82%D8%B5_%D8%A7%DB%8C%D9%85%D9%86%DB%8C_%D9%85%D8%AA%D8%BA%DB%8C%D8%B1_%D8%B4%D8%A7%DB%8C%D8%B9" title="نقص ایمنی متغیر شایع – Persian" lang="fa" hreflang="fa" data-title="نقص ایمنی متغیر شایع" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Hypogammaglobulin%C3%A9mie_commune_d%27expression_variable" title="Hypogammaglobulinémie commune d'expression variable – French" lang="fr" hreflang="fr" data-title="Hypogammaglobulinémie commune d'expression variable" 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/Immunodeficienza_comune_variabile" title="Immunodeficienza comune variabile – Italian" lang="it" hreflang="it" data-title="Immunodeficienza comune variabile" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Common-variable_immunodeficiency" title="Common-variable immunodeficiency – Dutch" lang="nl" hreflang="nl" data-title="Common-variable immunodeficiency" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a 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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">Common variable immunodeficiency</th></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/Q1472818?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><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data"><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a>, recurrent <a href="/wiki/Opportunistic_infection" title="Opportunistic infection">opportunistic infections</a>, fatigue</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data">Autoimmune manifestations; increased risk of <a href="/wiki/Malignancy" title="Malignancy">malignancies</a> such as <a href="/wiki/Gastric_carcinoma" class="mw-redirect" title="Gastric carcinoma">gastric carcinomas</a>, <a href="/wiki/Non-Hodgkin_lymphoma" title="Non-Hodgkin lymphoma">non-Hodgkin lymphoma</a>; lymphocytic infiltration of tissues; <a href="/wiki/Nodular_regenerative_hyperplasia" title="Nodular regenerative hyperplasia">nodular regenerative hyperplasia</a>; <a href="/wiki/Enteropathy" title="Enteropathy">enteropathy</a></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Varies; median age for symptoms is early 20s for males and mid-20s for females</td></tr><tr><th scope="row" class="infobox-label">Duration</th><td class="infobox-data"><a href="/wiki/Chronic_condition" title="Chronic condition">Lifelong</a></td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">CVID1, CVID2, CVID3, CVID4, CVID5, CVID6</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">Uncertain; at least 30% have an identified <a href="/wiki/Heterogeneous_condition" title="Heterogeneous condition">heterogeneous</a> gene mutation and/or inheritance of mutations</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Exclusion of other possible causes of hypogammaglobulinemia</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data">Varies by age group<br /><b>Age <4</b>: leaky <a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">SCID</a>, transient hypogammaglobulinemia of infancy, <a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">XLP</a>, <a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">XLA</a>, <a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">hyper-IgM syndromes</a>, <a href="/wiki/Myelodysplastic_syndrome" title="Myelodysplastic syndrome">myelodysplastic syndromes</a>, <a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott-Aldrich syndrome</a>, rare <a href="/wiki/Combined_immunodeficiencies" title="Combined immunodeficiencies">combined immune deficiencies</a>, <a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">cystic fibrosis</a>, <a href="/wiki/HIV" title="HIV">HIV</a><br /><b>Age 5-55</b>: loss of immunoglobulin due to renal/gut disease; side effects of medications (particularly <a href="/wiki/Anticonvulsant" title="Anticonvulsant">anticonvulsants</a> and <a href="/wiki/Antirheumatics" class="mw-redirect" title="Antirheumatics">anti-rheumatics</a>)<br /><b>Age >56</b>: <a href="/wiki/Thymoma" title="Thymoma">thymoma</a>, lymphoid malignancies, side effects of medications (particularly anticonvulsants and anti-rheumatics), loss of immunoglobulin due to renal/gut disease<sup id="cite_ref-update_1-0" class="reference"><a href="#cite_note-update-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data"><a href="/wiki/Immunoglobulin" class="mw-redirect" title="Immunoglobulin">Immunoglobulin</a> replacement therapy, symptom management</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Prognosis" title="Prognosis">Prognosis</a></th><td class="infobox-data">Varies by type; recent studies suggest those with only recurrent infections have little or no reduced life expectancy post-diagnosis, while those with disease-related complications have around 50% survival rate 33 years post-diagnosis</td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">Less than 1 in 30,000</td></tr></tbody></table> <p><b>Common variable immunodeficiency</b> (<b>CVID</b>) is an inborn <a href="/wiki/Immune_disorder" title="Immune disorder">immune disorder</a> characterized by recurrent infections and low <a href="/wiki/Antibody" title="Antibody">antibody</a> levels, specifically in <a href="/wiki/Immunoglobulin" class="mw-redirect" title="Immunoglobulin">immunoglobulin</a> (Ig) types <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">IgG</a>, <a href="/wiki/Immunoglobulin_M" title="Immunoglobulin M">IgM</a>, and <a href="/wiki/Immunoglobulin_A" title="Immunoglobulin A">IgA</a>.<sup id="cite_ref-CVID_Lib_of_Medicine_2-0" class="reference"><a href="#cite_note-CVID_Lib_of_Medicine-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Symptoms generally include high susceptibility to pathogens, <a href="/wiki/Chronic_lung_disease_(disambiguation)" class="mw-redirect mw-disambig" title="Chronic lung disease (disambiguation)">chronic lung disease</a>, as well as inflammation and infection of the gastrointestinal tract.<sup id="cite_ref-CVID_Lib_of_Medicine_2-1" class="reference"><a href="#cite_note-CVID_Lib_of_Medicine-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>CVID affects males and females equally. The condition can be found in children or teens but is generally not diagnosed or recognized until adulthood. The average age of diagnosis is between 20 and 50. </p><p>However, symptoms vary greatly between people. "Variable" refers to the heterogeneous clinical manifestations of this disorder, which include recurrent bacterial infections, increased risk for autoimmune disease and lymphoma, as well as gastrointestinal disease.<sup id="cite_ref-UpToDate:_CVID_in_adults_3-0" class="reference"><a href="#cite_note-UpToDate:_CVID_in_adults-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> CVID is a lifelong disease. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_complications">Signs and complications</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=1" title="Edit section: Signs and complications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The symptoms of CVID vary between those affected. Its main features are <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">hypogammaglobulinemia</a> and recurrent infections. Hypogammaglobulinemia manifests as a significant decrease in the levels of <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">IgG</a> antibodies, usually alongside <a href="/wiki/IgA" class="mw-redirect" title="IgA">IgA</a> antibodies; <a href="/wiki/IgM" class="mw-redirect" title="IgM">IgM</a> antibody levels are also decreased in about half of those affected.<sup id="cite_ref-Herriot2008_4-0" class="reference"><a href="#cite_note-Herriot2008-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Infectious_complications">Infectious complications</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=2" title="Edit section: Infectious complications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>People with common variable immunodeficiency have trouble fighting off infections due to the lack of antibodies produced, which normally resist invading microbes.<sup id="cite_ref-Common_Variable_Immune_Deficiency_5-0" class="reference"><a href="#cite_note-Common_Variable_Immune_Deficiency-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Infections are also the leading cause of morbidity and mortality in CVID patients. Due to impaired antibody development, vaccination is not effective for CVID patients. </p><p>The <a href="/wiki/Prevalence" title="Prevalence">prevalence</a> of bacterial complications (42%) is higher in comparison to viral (25%), parasitic (19%) or fungal (3%). Recurring bacterial infections are generally found in the upper and lower areas of the respiratory tract and in gastrointestinal tract. Many who have a recurring lung infection report developing chronic lung diseases and potentially life-threatening complications later in life.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p><p>Common infections include: </p> <ul><li>Pneumonia</li> <li>Ear infections</li> <li>Sinusitis</li> <li>Chronic coughing (lasting from a few weeks to many months)</li> <li>Gastrointestinal infections</li></ul> <p>The microorganisms that most frequently cause infections in CVID are <i><a href="/wiki/Haemophilus_influenzae" title="Haemophilus influenzae">Haemophilus influenzae</a></i>, <i><a href="/wiki/Streptococcus_pneumoniae" title="Streptococcus pneumoniae">Streptococcus pneumoniae</a></i>, and <i><a href="/wiki/Staphylococcus_aureus" title="Staphylococcus aureus">Staphylococcus aureus</a></i>. Pathogens less often isolated from those affected include <i><a href="/wiki/Neisseria_meningitidis" title="Neisseria meningitidis">Neisseria meningitidis</a></i>, <i><a href="/wiki/Pseudomonas_aeruginosa" title="Pseudomonas aeruginosa">Pseudomonas aeruginosa</a></i>, respectively <i><a href="/wiki/Giardia_lamblia" class="mw-redirect" title="Giardia lamblia">Giardia lamblia</a>, <a href="/wiki/Salmonella" title="Salmonella">Salmonella</a> sp., <a href="/wiki/Campylobacter_jejuni" title="Campylobacter jejuni">Campylobacter jejuni</a></i> for gastrointestinal tract.<sup id="cite_ref-:0_7-0" class="reference"><a href="#cite_note-:0-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p>Infections mostly affect the respiratory tract (nose, sinuses, bronchi, lungs) and the gastrointestinal tract; they can also occur at other sites, such as the eyes, skin, and ears. These infections respond to antibiotics but can recur upon discontinuation of antibiotics. <a href="/wiki/Bronchiectasis" title="Bronchiectasis">Bronchiectasis</a> can develop when severe, recurrent pulmonary infections are left untreated. </p><p>Gastrovascular infections or inflammation are very common for those with CVID. Signs of a gastrovascular infection include abdominal pain, nausea, bloating, vomiting, diarrhea, and weight loss. Many individuals with CVID have an impaired ability to absorb nutrients, including vitamins, proteins, minerals, fats, and sugar, within the digestive tract.<sup id="cite_ref-Common_Variable_Immune_Deficiency_5-1" class="reference"><a href="#cite_note-Common_Variable_Immune_Deficiency-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Autoimmune_disorders">Autoimmune disorders</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=3" title="Edit section: Autoimmune disorders"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>CVID is frequently associated with a variety of <a href="/wiki/Autoimmune_disease" title="Autoimmune disease">autoimmune diseases</a>. They could present as the first or the only clinical manifestation of the disease. The reported <a href="/wiki/Prevalence" title="Prevalence">prevalence</a> of autoimmunity ranged from 14% to 54% in CVID patients and is higher for females. The most common autoimmune disorders observed in CVID are autoimmune cytopenia, <a href="/wiki/Idiopathic_thrombocytopenic_purpura" class="mw-redirect" title="Idiopathic thrombocytopenic purpura">idiopathic thrombocytopenic purpura</a> (ITP), <a href="/wiki/Autoimmune_hemolytic_anemia" title="Autoimmune hemolytic anemia">AIHA</a> and <a href="/wiki/Neutropenia" title="Neutropenia">neutropenia</a>. Furthermore, autoimmune endocrinological (<a href="/wiki/Insulin-dependent_diabetes" class="mw-redirect" title="Insulin-dependent diabetes">insulin-dependent diabetes</a>, <a href="/wiki/Autoimmune_thyroiditis" class="mw-redirect" title="Autoimmune thyroiditis">autoimmune thyroiditis</a>), gastrointestinal (anemia, autoimmune enteropathy), dermatological (<a href="/wiki/Psoriasis" title="Psoriasis">psoriasis</a>, <a href="/wiki/Vitiligo" title="Vitiligo">vitiligo</a>) and rheumatological disorders were described in CVID too.<sup id="cite_ref-:1_8-0" class="reference"><a href="#cite_note-:1-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>The reason for such a high prevalence of autoimmunity in CVID individuals is not fully understood. CVID patients with autoimmunity show decreased number of immunosuppressive <a href="/wiki/Regulatory_T_cell" title="Regulatory T cell">regulatory T cells</a> (Treg) and impaired selection process of self-reactive antibodies, suggesting the possible mechanism.<sup id="cite_ref-:1_8-1" class="reference"><a href="#cite_note-:1-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Malignancy_and_CVID">Malignancy and CVID</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=4" title="Edit section: Malignancy and CVID"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The patients with CVID have a risk 5 to 12 times higher than the general population. The most frequent malignancies are <a href="/wiki/Non-Hodgkin_lymphoma" title="Non-Hodgkin lymphoma">Non-Hodgkin lymphoma</a> (NHL), gastric carcinoma and <a href="/wiki/Leukemia" title="Leukemia">leukemia</a>. <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> </p> <div class="mw-heading mw-heading3"><h3 id="Enteropathy">Enteropathy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=5" title="Edit section: Enteropathy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There is a wide spectrum of noninfectious gastrointestinal pathology and inflammation in CVID that is a part of the general immune dysregulation affecting patients with CVID. </p><p>The most common upper gastrointestinal inflammation is chronic gastritis, which may in rare cases develop to <a href="/wiki/Gastric_cancer" class="mw-redirect" title="Gastric cancer">gastric cancer</a>, and duodenal inflammation resembling <a href="/wiki/Coeliac_disease" title="Coeliac disease">celiac disease</a>. The inflammation affecting the lower GI tract is heterogenous and often characterized as an unspecific colitis. </p><p>Recent studies have suggested a role of gut microbiota in the etiology of CVID, and the reduction of mucosal IgA in CVID enteropathy. The heterogenous group of patients makes it difficult to find common grounds for treatment for the GI inflammation in CVID.<sup id="cite_ref-:0_7-1" class="reference"><a href="#cite_note-:0-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Other_complications">Other complications</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=6" title="Edit section: Other complications"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Due to changes in <a href="/wiki/B_cell" title="B cell">B cell</a> development, some individuals with CVID have accumulations of <a href="/wiki/Lymphocyte" title="Lymphocyte">lymphocytes</a> in lymphoid tissues.<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> This can cause mild to severely swollen lymph nodes or inflammation of the <a href="/wiki/Spleen" title="Spleen">spleen</a>. </p><p>Lymphocytic infiltration to tissues may cause enlargement of lymph nodes (<a href="/wiki/Lymphadenopathy" title="Lymphadenopathy">lymphadenopathy</a>), of the spleen (<a href="/wiki/Splenomegaly" title="Splenomegaly">splenomegaly</a>), and of the liver (<a href="/wiki/Hepatomegaly" title="Hepatomegaly">hepatomegaly</a>), as well as the formation of <a href="/wiki/Granulomas" class="mw-redirect" title="Granulomas">granulomas</a>. In the lung, this is known as <a href="/wiki/Granulomatous%E2%80%93lymphocytic_interstitial_lung_disease" title="Granulomatous–lymphocytic interstitial lung disease">granulomatous–lymphocytic interstitial lung disease</a>. </p><p>Anxiety and depression can occur as a result of dealing with the other symptoms.<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> </p><p>CVID patients generally complain of severe fatigue.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathogenesis_of_CVID">Pathogenesis of CVID</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=7" title="Edit section: Pathogenesis of CVID"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Genetic_defects">Genetic defects</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=8" title="Edit section: Genetic defects"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The causative factors of CVID are not fully known. Genetic mutations can be identified as the cause of disease in about 10% of people, while familial inheritance accounts for 10–25% of cases.<sup id="cite_ref-CVID_new_look_at_old_disease_13-0" class="reference"><a href="#cite_note-CVID_new_look_at_old_disease-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Rather than arising from a single genetic mutation, CVID seems to result from a variety of mutations that all contribute to a failure in <a href="/wiki/Antibody" title="Antibody">antibody</a> production. </p><p>Mutations in the genes encoding <a href="/wiki/CD278" title="CD278">ICOS</a>, <a href="/wiki/TACI" class="mw-redirect" title="TACI">TACI</a>, <a href="/wiki/CD19" title="CD19">CD19</a>, <a href="/wiki/CD20" title="CD20">CD20</a>, <a href="/wiki/CD21" class="mw-redirect" title="CD21">CD21</a>, <a href="/wiki/CD80" title="CD80">CD80</a>, and <a href="/wiki/BAFF_receptor" title="BAFF receptor">BAFFR</a> have been identified as causative of CVID.<sup id="cite_ref-CVID_new_look_at_old_disease_13-1" class="reference"><a href="#cite_note-CVID_new_look_at_old_disease-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid18254984_14-0" class="reference"><a href="#cite_note-pmid18254984-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid17173844_15-0" class="reference"><a href="#cite_note-pmid17173844-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Susceptibility to CVID may also be linked to the <a href="/wiki/Major_histocompatibility_complex" title="Major histocompatibility complex">major histocompatibility complex</a> (MHC) of the genome, particularly to DR-DQ haplotypes.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> A mutation in the <a href="/wiki/NFKB2" title="NFKB2">NFKB2</a> gene has recently been shown to cause CVID-like symptoms in a murine model. The frequency of this NFKB2 mutation in the CVID population is, however, yet to be established.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_18-0" class="reference"><a href="#cite_note-:3-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable"> <caption>The examples of molecular defects in CVID <sup id="cite_ref-:2_19-0" class="reference"><a href="#cite_note-:2-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:3_18-1" class="reference"><a href="#cite_note-:3-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> </caption> <tbody><tr> <th>Molecule </th> <th>Role in CVID </th></tr> <tr> <td colspan="2"><b>Surface molecules</b> </td></tr> <tr> <td><a href="/wiki/Transmembrane_activator_and_CAML_interactor" title="Transmembrane activator and CAML interactor">TACI</a> </td> <td>B-cell activation defect and autoimmunity </td></tr> <tr> <td><a href="/wiki/B-cell_activating_factor" title="B-cell activating factor">BAFF-R</a> </td> <td>Low peripherial B-cell numbers, decreased antibody responses </td></tr> <tr> <td><a href="/wiki/CD27" title="CD27">CD27</a> </td> <td><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a>, absent <a href="/wiki/Memory_B_cell" title="Memory B cell">memory B cells</a> </td></tr> <tr> <td>CD19 complex <p>(<a href="/wiki/CD19" title="CD19">CD19</a>,<a href="/wiki/CD81" title="CD81">CD81</a>, <a href="/wiki/Complement_receptor_2" title="Complement receptor 2">CD21</a>) </p> </td> <td>Impaired <a href="/wiki/BCR_(gene)" title="BCR (gene)">BCR</a> signaling </td></tr> <tr> <td>IL-21R and <a href="/wiki/Interleukin_21" title="Interleukin 21">IL-21</a> </td> <td>Impaired germinal center formation, impaired class-switch process and plazma cell differentiation </td></tr> <tr> <td><a href="/wiki/Cytotoxic_T-lymphocyte_associated_protein_4" title="Cytotoxic T-lymphocyte associated protein 4">CTLA-4</a> </td> <td>Impaired function of <a href="/wiki/Regulatory_T_cell" title="Regulatory T cell">Treg cells</a> </td></tr> <tr> <td>ICOS </td> <td>Reduced B cell counts and low levels of antibodies </td></tr> <tr> <td colspan="2"><b>Cytosolic molecules</b> </td></tr> <tr> <td>PKC-delta </td> <td>Decreased number of memory B cells </td></tr> <tr> <td>PLC-gamma-2 </td> <td>Defective BCR signaling </td></tr> <tr> <td><a href="/wiki/Phosphoinositide_3-kinase" title="Phosphoinositide 3-kinase">PI3K</a> </td> <td>Impaired B and T cell homeostasis </td></tr> <tr> <td><a href="/wiki/ZAP70" title="ZAP70">ZAP70</a> </td> <td>Impaired T cell function </td></tr> <tr> <td><a href="/wiki/Toll-like_receptor_7" title="Toll-like receptor 7">TLR7</a> and <a href="/wiki/Toll-like_receptor_9" title="Toll-like receptor 9">TLR9</a> </td> <td>Defects in B cells activation in response to TLRs ligands </td></tr> <tr> <td colspan="2"><b>Nuclear defects</b> </td></tr> <tr> <td><a href="/wiki/STAT1" title="STAT1">STAT1</a> </td> <td>Hypogammaglobulinemia, reduced number of memory and plasma cells </td></tr> <tr> <td><a href="/wiki/NF-%CE%BAB" title="NF-κB">NFKB</a> </td> <td>Impaired B cell maturation, differentiation and class switching </td></tr></tbody></table> <div class="mw-heading mw-heading3"><h3 id="Epigenetic_factors">Epigenetic factors</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=9" title="Edit section: Epigenetic factors"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Several recent studies have described a potential role of epigenetics factor (including DNA methylation, chromatin and <a href="/wiki/Histone" title="Histone">histone</a> modulation and also <a href="/wiki/Non-coding_RNA" title="Non-coding RNA">non-coding RNAs</a>) in pathogenesis of CVID. <sup id="cite_ref-:2_19-1" class="reference"><a href="#cite_note-:2-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Immune_cell_abnormalities">Immune cell abnormalities</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=10" title="Edit section: Immune cell abnormalities"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There are several abnormalities described in CVID patients connected to the count of particular cell (sub)populations. </p><p>The majority of CVID patients have normal B cell counts, suggesting the impaired antibody production is mainly a defect in the differentiation process of B cells into memory and plasma cells. </p><p>There are also T cell abnormalities in CVID including counts, percentages, surface markers and function differences. <sup id="cite_ref-:2_19-2" class="reference"><a href="#cite_note-:2-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p> <table class="wikitable"> <caption><b>The examples of possible</b> <b>immune cell population changes</b> <b>in CVID <sup id="cite_ref-:2_19-3" class="reference"><a href="#cite_note-:2-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup></b> </caption> <tbody><tr> <th>Population </th> <th>Change </th></tr> <tr> <td colspan="2"><b>B cells</b> </td></tr> <tr> <td>Memory B (CD19+CD27+) </td> <td>decreased </td></tr> <tr> <td>Plasma cells </td> <td>decreased </td></tr> <tr> <td>Transitional B cells </td> <td>increased </td></tr> <tr> <td>CD21low B cells </td> <td>increased </td></tr> <tr> <td colspan="2"><b>T cells</b> </td></tr> <tr> <td>Naive CD4+ </td> <td>decreased </td></tr> <tr> <td>Memory CD4+ </td> <td>increased </td></tr> <tr> <td>Naive CD8+ </td> <td>decreased </td></tr> <tr> <td>Memory CD8+ </td> <td>increased </td></tr></tbody></table> <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=Common_variable_immunodeficiency&action=edit&section=11" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>According to a European registry study, the mean age at onset of symptoms was 26.3 years old.<sup id="cite_ref-CVID_epi_and_research_21-0" class="reference"><a href="#cite_note-CVID_epi_and_research-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> As per the criteria laid out by ESID (European Society for Immunodeficiencies) and PAGID (Pan-American Group for Immunodeficiency), CVID is diagnosed if:<sup id="cite_ref-Update_in_Understanding_22-0" class="reference"><a href="#cite_note-Update_in_Understanding-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p> <ul><li>the person presents with a marked decrease in serum <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">IgG</a> levels (<4.5 g/L) and a marked decrease below the lower limit of normal for age in at least one of the isotypes <a href="/wiki/IgM" class="mw-redirect" title="IgM">IgM</a> or <a href="/wiki/IgA" class="mw-redirect" title="IgA">IgA</a>;</li> <li>the person is four years of age or older;</li> <li>the person lacks an antibody immune response to protein antigens or immunization.</li></ul> <p>Diagnosis is chiefly by exclusion, i.e., alternative causes of hypogammaglobulinemia, such as <a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a>, must be excluded before a diagnosis of CVID can be made. </p><p>Diagnosis is difficult because of the diversity of phenotypes seen in people with CVID. For example, serum immunoglobulin levels in people with CVID vary greatly. Generally, people can be grouped as follows: no immunoglobulin production, immunoglobulin (Ig) M production only, or both normal IgM and IgG production.<sup id="cite_ref-CVID_diagnosis_23-0" class="reference"><a href="#cite_note-CVID_diagnosis-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> Additionally, B cell numbers are also highly variable. 12% of people have no detectable B cells, 12% have reduced B cells, and 54% are within the normal range.<sup id="cite_ref-Update_in_Understanding_22-1" class="reference"><a href="#cite_note-Update_in_Understanding-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> In general, people with CVID display higher frequencies of <a href="/wiki/Naive_B_cell" title="Naive B cell">naive B cells</a> and lower frequencies of class-switched <a href="/wiki/Memory_B_cells" class="mw-redirect" title="Memory B cells">memory B cells</a>. Frequencies of other B cell populations, such as IgD memory B cells, <a href="/wiki/Transitional_B_cells" class="mw-redirect" title="Transitional B cells">transitional B cells</a>, and <a href="/wiki/CD21" class="mw-redirect" title="CD21">CD21</a> B cells, are also affected and are associated with specific disease features. Although CVID is often thought of as a serum immunoglobulin- and B cell-mediated disease, T cells can display abnormal behavior. Affected individuals typically present with low frequencies of CD4<sup>+</sup>, a T-cell marker, and decreased circulation of <a href="/wiki/Regulatory_T_cells" class="mw-redirect" title="Regulatory T cells">regulatory T cells</a> and <a href="/wiki/Natural_killer_T_cell" title="Natural killer T cell">iNKT cells</a>. Notably, approximately 10% of people display CD4<sup>+</sup> T cell counts lower than 200 cells/mm<sup>3</sup>; this particular phenotype of CVID has been named LOCID (Late Onset Combined Immunodeficiency) and has a poorer prognosis than classical CVID. </p> <div class="mw-heading mw-heading3"><h3 id="Types">Types</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=12" title="Edit section: Types"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The following types of CVID have been identified, and correspond to mutations in different gene segments: </p> <table class="wikitable" style="text-align:center"> <tbody><tr> <th>Type </th> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Gene </th></tr> <tr> <td>CVID1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/607594">607594</a> </td> <td><i><a href="/wiki/CD278" title="CD278">ICOS</a></i> </td></tr> <tr> <td>CVID2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/240500">240500</a> </td> <td><i><a href="/wiki/TACI" class="mw-redirect" title="TACI">TACI</a></i> </td></tr> <tr> <td>CVID3 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613493">613493</a> </td> <td><i><a href="/wiki/CD19" title="CD19">CD19</a></i> </td></tr> <tr> <td>CVID4 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613494">613494</a> </td> <td><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> </td></tr> <tr> <td>CVID5 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613495">613495</a> </td> <td><i><a href="/wiki/CD20" title="CD20">CD20</a></i> </td></tr> <tr> <td>CVID6 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613496">613496</a> </td> <td><i><a href="/wiki/CD81" title="CD81">CD81</a></i> </td></tr></tbody></table> <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=Common_variable_immunodeficiency&action=edit&section=13" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment options are limited and usually include lifelong <a href="/wiki/Immunoglobulin" class="mw-redirect" title="Immunoglobulin">immunoglobulin</a> replacement therapy.<sup id="cite_ref-many_faces_of_CVID_24-0" class="reference"><a href="#cite_note-many_faces_of_CVID-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> This therapy is thought to help reduce bacterial infections. This treatment alone is not wholly effective, and many people still experience other symptoms such as lung disease and noninfectious inflammatory symptoms. This treatment replenishes Ig subtypes that the person lacks, is given at frequent intervals for life, and is thought to help reduce bacterial infections and boost immune function.<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup> Before therapy begins, plasma donations are tested for known blood-borne pathogens, then pooled and processed to obtain concentrated <a href="/wiki/Immunoglobulin_G" title="Immunoglobulin G">IgG</a> samples. Infusions can be administered in three different forms: intravenously (IVIg),<sup id="cite_ref-pmid16604243_26-0" class="reference"><a href="#cite_note-pmid16604243-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> subcutaneously (SCIg), and intramuscularly (IMIg). </p><p>The administration of <a href="/wiki/Intravenous_immunoglobulins" class="mw-redirect" title="Intravenous immunoglobulins">intravenous immunoglobulins</a> requires the insertion of a cannula or needle in a vein, usually in the arms or hands. Because a highly concentrated product is used, IVIg infusions take place every three to four weeks. Subcutaneous infusions slowly release the Ig serum underneath the skin, again through a needle, and take place every week.<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> Intramuscular infusions are no longer widely used, as they can be painful and are more likely to cause reactions. </p><p>People often experience adverse side effects from immunoglobulin infusions, including: </p> <ul><li>swelling at the insertion site (common in SCIG)</li> <li>chills</li> <li>headache</li> <li>nausea (common in IVIG)</li> <li>fatigue (common in IVIG)</li> <li>muscle aches and pain, or joint pain</li> <li>fever (common in IVIG and rare in SCIG)</li> <li><a href="/wiki/Hives" title="Hives">hives</a> (rare)</li> <li>thrombotic events (rare)</li> <li>aseptic meningitis (rare, more common in people with SLE)</li> <li><a href="/wiki/Anaphylactic_shock" class="mw-redirect" title="Anaphylactic shock">anaphylactic shock</a> (very rare)</li></ul> <p>In addition to Ig replacement therapy, treatment may also involve immune suppressants to control autoimmune symptoms of the disease and high-dose steroids like corticosteroids.<sup id="cite_ref-Update_in_Understanding_22-2" class="reference"><a href="#cite_note-Update_in_Understanding-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> In some cases, antibiotics are used to fight chronic lung disease resulting from CVID.<sup id="cite_ref-immune_deficiency_foundation_28-0" class="reference"><a href="#cite_note-immune_deficiency_foundation-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> The outlook for people varies greatly depending on their level of lung and other organ damage prior to diagnosis and treatment. </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=14" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>CVID has an estimated prevalence of about 1:50,000 in Caucasians.<sup id="cite_ref-29" class="reference"><a href="#cite_note-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> The disease seems to be less prevalent among Asians and African Americans. Males and females are equally affected; however, among children, boys predominate.<sup id="cite_ref-CVID_diagnosis_23-1" class="reference"><a href="#cite_note-CVID_diagnosis-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> A recent study of people in Europe with primary immunodeficiencies found that 30% had CVID as opposed to a different immunodeficiency.<sup id="cite_ref-CVID_new_look_at_old_disease_13-2" class="reference"><a href="#cite_note-CVID_new_look_at_old_disease-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> 10–25% of people inherit the disease, typically through autosomal-dominant inheritance. Given the rarity of the disease, it is not yet possible to generalize about its prevalence among ethnic and racial groups. CVID shortens the lifespan, but no study currently has a median age recorded. One study suggests the median age of death for men and women is 42 and 44 years old, respectively, but most patients involved in the study are still alive.<sup id="cite_ref-many_faces_of_CVID_24-1" class="reference"><a href="#cite_note-many_faces_of_CVID-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> Those people with accompanying disorders had the worst prognosis (50% survival 33 years after diagnosis), and those with only CVID-caused frequent infections had the longest survival rates, with another study stating a life expectancy almost equaling that of the general UK population.<sup id="cite_ref-update_1-1" class="reference"><a href="#cite_note-update-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Additionally, people with CVID with one or more noninfectious complications have an 11 times higher risk of death as compared to people with only infections. </p> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=15" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Immunodeficiencies comprise many diseases and are genetic defects affecting the immune system. There are roughly 150 immunodeficiencies spanning over 120 genetic defects.<sup id="cite_ref-Update_in_Understanding_22-3" class="reference"><a href="#cite_note-Update_in_Understanding-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Charles_Alderson_Janeway" title="Charles Alderson Janeway">Charles Janeway Sr.</a> is generally credited with the first description of a case of CVID in 1953.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> The case involved a 39-year-old who had recurrent infections, bronchiectasis, and meningitis.<sup id="cite_ref-CVID_new_look_at_old_disease_13-3" class="reference"><a href="#cite_note-CVID_new_look_at_old_disease-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> CVID has since emerged as the predominant class of primary antibody deficiencies. It is thought to affect between 1 in 25,000 to 1 in 50,000 people worldwide. Though described in 1953, there was no standard definition for CVID until the 1990s, which caused widespread confusion during diagnosis. During the 1990s, the European Society for Immunodeficiency (ESID) and Pan-American Group for Immunodeficiency (PAGID) developed diagnostic criteria for the disease, including the minimum age of diagnosis and the need to exclude other conditions. Since publication in 1999, some criteria have been changed, such as increasing the minimum age of diagnosis. </p> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=16" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Current research is aimed at studying large cohorts of people with CVID in an attempt to better understand the age of onset as well as the mechanism, genetic factors, and progression of the disease.<sup id="cite_ref-CVID_diagnosis_23-2" class="reference"><a href="#cite_note-CVID_diagnosis-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>Funding for research in the US is provided by the National Institutes of Health. Key research in the UK was previously funded by the Primary Immunodeficiency Association (PiA) until its closure in January 2012,<sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> and funding is raised through the annual Jeans for Genes campaign. Current efforts are aimed at studying the following:<sup id="cite_ref-Update_in_Understanding_22-4" class="reference"><a href="#cite_note-Update_in_Understanding-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Causes of complications. Little is known about why such diverse complications arise during treatment.</li> <li>Underlying genetic factors. Though many polymorphisms and mutations have been identified, their respective roles in CVID development are poorly understood and not represented in all people with CVID.</li> <li>Finding new ways to study CVID. Given that CVID arises from more than one gene, <a href="/wiki/Gene_knock-out" class="mw-redirect" title="Gene knock-out">gene knock-out</a> methods are unlikely to be helpful. It is necessary to seek out disease-related polymorphisms by screening large populations of people with CVID, but this is challenging given the rarity of the disease.</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=Common_variable_immunodeficiency&action=edit&section=17" 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-update-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-update_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-update_1-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output 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"Agammaglobulinemia". <i>Trans Assoc Am Physicians</i>. <b>66</b>: 200–2. <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/13136263">13136263</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Trans+Assoc+Am+Physicians&rft.atitle=Agammaglobulinemia&rft.volume=66&rft.pages=200-2&rft.date=1953&rft_id=info%3Apmid%2F13136263&rft.aulast=Janeway&rft.aufirst=CA&rft.au=Apt%2C+L&rft.au=Gitlin%2C+D&rfr_id=info%3Asid%2Fen.wikipedia.org%3ACommon+variable+immunodeficiency" class="Z3988"></span></span> </li> <li id="cite_note-31"><span class="mw-cite-backlink"><b><a href="#cite_ref-31">^</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://web.archive.org/web/20120913082130/http://www.ukpin.org.uk/home/PIA-archive/index.htm">"Archived copy"</a>. 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Retrieved <span class="nowrap">October 26,</span> 2012</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Archived+copy&rft_id=http%3A%2F%2Fwww.ukpin.org.uk%2Fhome%2FPIA-archive%2Findex.htm&rfr_id=info%3Asid%2Fen.wikipedia.org%3ACommon+variable+immunodeficiency" class="Z3988"></span><span class="cs1-maint citation-comment"><code class="cs1-code">{{<a href="/wiki/Template:Cite_web" title="Template:Cite web">cite web</a>}}</code>: CS1 maint: archived copy as title (<a href="/wiki/Category:CS1_maint:_archived_copy_as_title" title="Category:CS1 maint: archived copy as title">link</a>)</span></span> </li> </ol></div></div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMoris_G.Garcia-Monco_JC1999" class="citation journal cs1">Moris G., Garcia-Monco JC (1999). <a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchinte.159.11.1185">"The Challenge of Drug-Induced Aseptic Meningitis"</a>. <i>Archives of Internal Medicine</i>. <b>159</b> (11): 1185–1194. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Farchinte.159.11.1185">10.1001/archinte.159.11.1185</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/10371226">10371226</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Archives+of+Internal+Medicine&rft.atitle=The+Challenge+of+Drug-Induced+Aseptic+Meningitis&rft.volume=159&rft.issue=11&rft.pages=1185-1194&rft.date=1999&rft_id=info%3Adoi%2F10.1001%2Farchinte.159.11.1185&rft_id=info%3Apmid%2F10371226&rft.au=Moris+G.&rft.au=Garcia-Monco+JC&rft_id=https%3A%2F%2Fdoi.org%2F10.1001%252Farchinte.159.11.1185&rfr_id=info%3Asid%2Fen.wikipedia.org%3ACommon+variable+immunodeficiency" class="Z3988"></span> (IVIG and Aseptic Meningitis, association with SLE)</li></ul> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Common_variable_immunodeficiency&action=edit&section=18" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a rel="nofollow" class="external 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0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Antibody" title="Antibody">Antibody</a>/<a href="/wiki/Humoral_immune_deficiency" title="Humoral immune deficiency">humoral</a><br />(<a href="/wiki/B_cell" title="B cell">B</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Transient_hypogammaglobulinemia_of_infancy" title="Transient hypogammaglobulinemia of infancy">Transient hypogammaglobulinemia of infancy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dysgammaglobulinemia" title="Dysgammaglobulinemia">Dysgammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">IgA deficiency</a></li> <li><a href="/wiki/IgG_deficiency" title="IgG deficiency">IgG deficiency</a></li> <li><a href="/wiki/Immunoglobulin_M_deficiency" class="mw-redirect" title="Immunoglobulin M deficiency">IgM deficiency</a></li> <li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_2" title="Hyper-IgM syndrome type 2">2</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">3</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_4" title="Hyper-IgM syndrome type 4">4</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_5" title="Hyper-IgM syndrome type 5">5</a>)</li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyper-IgE syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">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="Cell_surface_receptor_deficiencies" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Cell_surface_receptor_deficiencies" title="Template:Cell surface receptor deficiencies"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Cell_surface_receptor_deficiencies" title="Template talk:Cell surface receptor deficiencies"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Cell_surface_receptor_deficiencies" title="Special:EditPage/Template:Cell surface receptor deficiencies"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Cell_surface_receptor_deficiencies" style="font-size:114%;margin:0 4em"><a href="/wiki/Cell_surface_receptor" title="Cell surface receptor">Cell surface receptor</a> deficiencies</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/G_protein-coupled_receptor" title="G protein-coupled receptor">G protein-coupled receptor</a><br />(including <a href="/wiki/Hormone_receptor" title="Hormone receptor">hormone</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Class A</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thyrotropin_receptor" title="Thyrotropin receptor">TSHR</a></i> (<a href="/wiki/Congenital_hypothyroidism" title="Congenital hypothyroidism">Congenital hypothyroidism 1</a>)</li> <li><i><a href="/wiki/Luteinizing_hormone/choriogonadotropin_receptor" title="Luteinizing hormone/choriogonadotropin receptor">LHCGR</a></i> (<a href="/wiki/Luteinizing_hormone_insensitivity" class="mw-redirect" title="Luteinizing hormone insensitivity">Luteinizing hormone insensitivity</a>, <a href="/wiki/Leydig_cell_hypoplasia" title="Leydig cell hypoplasia">Leydig cell hypoplasia</a>, <a href="/wiki/Male-limited_precocious_puberty" class="mw-redirect" title="Male-limited precocious puberty">Male-limited precocious puberty</a>)</li> <li><i><a href="/wiki/FSH-receptor" class="mw-redirect" title="FSH-receptor">FSHR</a></i> (<a href="/wiki/Follicle-stimulating_hormone_insensitivity" title="Follicle-stimulating hormone insensitivity">Follicle-stimulating hormone insensitivity</a>, <a href="/wiki/XX_gonadal_dysgenesis" title="XX gonadal dysgenesis">XX gonadal dysgenesis</a>)</li> <li><i><a href="/wiki/Gonadotropin-releasing_hormone_receptor" title="Gonadotropin-releasing hormone receptor">GnRHR</a></i> (<a href="/wiki/Gonadotropin-releasing_hormone_insensitivity" title="Gonadotropin-releasing hormone insensitivity">Gonadotropin-releasing hormone insensitivity</a>)</li> <li><i><a href="/wiki/Endothelin_receptor" title="Endothelin receptor">EDNRB</a></i> (<a href="/wiki/ABCD_syndrome" title="ABCD syndrome">ABCD syndrome</a>, <a href="/wiki/Waardenburg_syndrome" title="Waardenburg syndrome">Waardenburg syndrome 4a</a>, <a href="/wiki/Hirschsprung%27s_disease" title="Hirschsprung's disease">Hirschsprung's disease 2</a>)</li> <li><i><a href="/wiki/AVPR2" class="mw-redirect" title="AVPR2">AVPR2</a></i> (<a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">Nephrogenic diabetes insipidus 1</a>)</li> <li><i><a href="/wiki/Prostaglandin_E2_receptor" title="Prostaglandin E2 receptor">PTGER2</a></i> (<a href="/wiki/Aspirin-exacerbated_respiratory_disease" title="Aspirin-exacerbated respiratory disease">Aspirin-exacerbated respiratory disease</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class B</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/PTH1R" class="mw-redirect" title="PTH1R">PTH1R</a></i> (<a href="/wiki/Jansen%27s_metaphyseal_chondrodysplasia" title="Jansen's metaphyseal chondrodysplasia">Jansen's metaphyseal chondrodysplasia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class C</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Calcium-sensing_receptor" title="Calcium-sensing receptor">CASR</a></i> (<a href="/wiki/Familial_hypocalciuric_hypercalcemia" title="Familial hypocalciuric hypercalcemia">Familial hypocalciuric hypercalcemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Class F</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/FZD4" class="mw-redirect" title="FZD4">FZD4</a></i> (<a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Enzyme-linked_receptor" title="Enzyme-linked receptor">Enzyme-linked receptor</a><br />(including<br /><a href="/wiki/Growth_factor_receptor" title="Growth factor receptor">growth factor</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Receptor_tyrosine_kinase" title="Receptor tyrosine kinase">RTK</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ROR2" title="ROR2">ROR2</a></i> (<a href="/wiki/Robinow_syndrome" title="Robinow syndrome">Robinow syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_1" title="Fibroblast growth factor receptor 1">FGFR1</a></i> (<a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL2 Kallmann syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_2" title="Fibroblast growth factor receptor 2">FGFR2</a></i> (<a href="/wiki/Apert_syndrome" title="Apert syndrome">Apert syndrome</a>, <a href="/wiki/Antley%E2%80%93Bixler_syndrome" title="Antley–Bixler syndrome">Antley–Bixler syndrome</a>, <a href="/wiki/Pfeiffer_syndrome" title="Pfeiffer syndrome">Pfeiffer syndrome</a>, <a href="/wiki/Crouzon_syndrome" title="Crouzon syndrome">Crouzon syndrome</a>, <a href="/wiki/Jackson%E2%80%93Weiss_syndrome" title="Jackson–Weiss syndrome">Jackson–Weiss syndrome</a>)</li> <li><i><a href="/wiki/Fibroblast_growth_factor_receptor_3" title="Fibroblast growth factor receptor 3">FGFR3</a></i> (<a href="/wiki/Achondroplasia" title="Achondroplasia">Achondroplasia</a>, <a href="/wiki/Hypochondroplasia" title="Hypochondroplasia">Hypochondroplasia</a>, <a href="/wiki/Thanatophoric_dysplasia" title="Thanatophoric dysplasia">Thanatophoric dysplasia</a>, <a href="/wiki/Muenke_syndrome" title="Muenke syndrome">Muenke syndrome</a>)</li> <li><i><a href="/wiki/Insulin_receptor" title="Insulin receptor">INSR</a></i> (<a href="/wiki/Donohue_syndrome" title="Donohue syndrome">Donohue syndrome</a></li> <li><a href="/wiki/Rabson%E2%80%93Mendenhall_syndrome" title="Rabson–Mendenhall syndrome">Rabson–Mendenhall syndrome</a>)</li> <li><i><a href="/wiki/TrkA_receptor" class="mw-redirect" title="TrkA receptor">NTRK1</a></i> (<a href="/wiki/Congenital_insensitivity_to_pain_with_anhidrosis" title="Congenital insensitivity to pain with anhidrosis">Congenital insensitivity to pain with anhidrosis</a>)</li> <li><i><a href="/wiki/CD117" class="mw-redirect" title="CD117">KIT</a></i> (<a href="/wiki/Piebaldism" title="Piebaldism">KIT Piebaldism</a>, <a href="/wiki/Gastrointestinal_stromal_tumor" title="Gastrointestinal stromal tumor">Gastrointestinal stromal tumor</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serine/threonine-specific_protein_kinase" title="Serine/threonine-specific protein kinase">STPK</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Anti-M%C3%BCllerian_hormone_receptor" title="Anti-Müllerian hormone receptor">AMHR2</a></i> (<a href="/wiki/Persistent_M%C3%BCllerian_duct_syndrome" title="Persistent Müllerian duct syndrome">Persistent Müllerian duct syndrome II</a>)</li></ul> <ul><li><a href="/wiki/TGF_beta_receptors" class="mw-redirect" title="TGF beta receptors">TGF beta receptors</a>: <a href="/wiki/Endoglin" title="Endoglin">Endoglin</a>/<a href="/wiki/ACVRL1" title="ACVRL1">Alk-1</a>/<a href="/wiki/Mothers_against_decapentaplegic_homolog_4" title="Mothers against decapentaplegic homolog 4">SMAD4</a> (<a href="/wiki/Hereditary_hemorrhagic_telangiectasia" title="Hereditary hemorrhagic telangiectasia">Hereditary hemorrhagic telangiectasia</a>)</li> <li><a href="/wiki/TGF_beta_receptor_1" title="TGF beta receptor 1">TGFBR1</a>/<a href="/wiki/TGF_beta_receptor_2" title="TGF beta receptor 2">TGFBR2</a> (<a href="/wiki/Loeys%E2%80%93Dietz_syndrome" title="Loeys–Dietz syndrome">Loeys–Dietz syndrome</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Guanylate_cyclase" title="Guanylate cyclase">GC</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/GUCY2D" title="GUCY2D">GUCY2D</a></i> (<a href="/wiki/Leber%27s_congenital_amaurosis" class="mw-redirect" title="Leber's congenital amaurosis">Leber's congenital amaurosis 1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/JAK-STAT_signaling_pathway" title="JAK-STAT signaling pathway">JAK-STAT</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Type_I_cytokine_receptor" title="Type I cytokine receptor">Type I cytokine receptor</a>: <i><a href="/wiki/Growth_hormone_receptor" title="Growth hormone receptor">GH</a></i> (<a href="/wiki/Laron_syndrome" title="Laron syndrome">Laron syndrome</a>)</li> <li><i><a href="/wiki/Granulocyte_macrophage_colony-stimulating_factor_receptor" class="mw-redirect" title="Granulocyte macrophage colony-stimulating factor receptor">CSF2RA</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 4</a>)</li></ul> <ul><li><a href="/wiki/Myeloproliferative_leukemia_virus_oncogene" class="mw-redirect" title="Myeloproliferative leukemia virus oncogene">MPL</a> (<a href="/wiki/Congenital_amegakaryocytic_thrombocytopenia" title="Congenital amegakaryocytic thrombocytopenia">Congenital amegakaryocytic thrombocytopenia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Tumor_necrosis_factor_receptor" class="mw-redirect" title="Tumor necrosis factor receptor">TNF receptor</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/TNFRSF1A" class="mw-redirect" title="TNFRSF1A">TNFRSF1A</a></i> (<a href="/wiki/TNF_receptor_associated_periodic_syndrome" title="TNF receptor associated periodic syndrome">TNF receptor associated periodic syndrome</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">Selective immunoglobulin A deficiency 2</a>)</li> <li><i><a href="/wiki/CD40_(protein)" title="CD40 (protein)">TNFRSF5</a></i> (<a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">Hyper-IgM syndrome type 3</a>)</li> <li><i><a href="/wiki/TNFRSF13C" class="mw-redirect" title="TNFRSF13C">TNFRSF13C</a></i> (<a class="mw-selflink selflink">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a class="mw-selflink selflink">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">AGM3, 6</a></li></ul> <ul><li><a href="/wiki/Integrin" title="Integrin">Integrin</a>: <a href="/wiki/Leukocyte_adhesion_deficiency-1" title="Leukocyte adhesion deficiency-1">LAD1</a></li> <li><a href="/wiki/Glanzmann%27s_thrombasthenia" title="Glanzmann's thrombasthenia">Glanzmann's thrombasthenia</a></li> <li><a href="/wiki/Junctional_epidermolysis_bullosa_with_pyloric_atresia" class="mw-redirect" title="Junctional epidermolysis bullosa with pyloric atresia">Junctional epidermolysis bullosa with pyloric atresia</a></li></ul> <p><i><a href="/wiki/EDAR" class="mw-redirect" title="EDAR">EDAR</a></i> (<a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">EDAR hypohidrotic ectodermal dysplasia</a>) </p> <ul><li><i><a href="/wiki/PTCH1" title="PTCH1">PTCH1</a></i> (<a href="/wiki/Nevoid_basal-cell_carcinoma_syndrome" title="Nevoid basal-cell carcinoma syndrome">Nevoid basal-cell carcinoma syndrome</a>)</li> <li><i><a href="/wiki/BMPR1A" title="BMPR1A">BMPR1A</a></i> (<a href="/wiki/Juvenile_polyposis_syndrome" title="Juvenile polyposis syndrome">BMPR1A juvenile polyposis syndrome</a>)</li> <li><i><a href="/wiki/IL2RG" class="mw-redirect" title="IL2RG">IL2RG</a></i> (<a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a>)</li></ul> <dl><dt>See also</dt> <dd><a href="/wiki/Template:Cell_surface_receptors" title="Template:Cell surface receptors">cell surface receptors</a></dd></dl> </div></td></tr></tbody></table></div> <style data-mw-deduplicate="TemplateStyles:r1130092004">.mw-parser-output .portal-bar{font-size:88%;font-weight:bold;display:flex;justify-content:center;align-items:baseline}.mw-parser-output .portal-bar-bordered{padding:0 2em;background-color:#fdfdfd;border:1px solid #a2a9b1;clear:both;margin:1em auto 0}.mw-parser-output .portal-bar-related{font-size:100%;justify-content:flex-start}.mw-parser-output .portal-bar-unbordered{padding:0 1.7em;margin-left:0}.mw-parser-output .portal-bar-header{margin:0 1em 0 0.5em;flex:0 0 auto;min-height:24px}.mw-parser-output .portal-bar-content{display:flex;flex-flow:row wrap;flex:0 1 auto;padding:0.15em 0;column-gap:1em;align-items:baseline;margin:0;list-style:none}.mw-parser-output .portal-bar-content-related{margin:0;list-style:none}.mw-parser-output .portal-bar-item{display:inline-block;margin:0.15em 0.2em;min-height:24px;line-height:24px}@media screen and (max-width:768px){.mw-parser-output .portal-bar{font-size:88%;font-weight:bold;display:flex;flex-flow:column wrap;align-items:baseline}.mw-parser-output .portal-bar-header{text-align:center;flex:0;padding-left:0.5em;margin:0 auto}.mw-parser-output .portal-bar-related{font-size:100%;align-items:flex-start}.mw-parser-output .portal-bar-content{display:flex;flex-flow:row wrap;align-items:center;flex:0;column-gap:1em;border-top:1px solid #a2a9b1;margin:0 auto;list-style:none}.mw-parser-output .portal-bar-content-related{border-top:none;margin:0;list-style:none}}.mw-parser-output .navbox+link+.portal-bar,.mw-parser-output .navbox+style+.portal-bar,.mw-parser-output .navbox+link+.portal-bar-bordered,.mw-parser-output .navbox+style+.portal-bar-bordered,.mw-parser-output .sister-bar+link+.portal-bar,.mw-parser-output .sister-bar+style+.portal-bar,.mw-parser-output .portal-bar+.navbox-styles+.navbox,.mw-parser-output .portal-bar+.navbox-styles+.sister-bar{margin-top:-1px}</style><div class="portal-bar noprint metadata noviewer portal-bar-bordered" role="navigation" aria-label="Portals"><span class="portal-bar-header"><a href="/wiki/Wikipedia:Contents/Portals" title="Wikipedia:Contents/Portals">Portals</a>:</span><ul class="portal-bar-content"><li class="portal-bar-item"><span class="nowrap"><span typeof="mw:File"><a href="/wiki/File:Issoria_lathonia.jpg" class="mw-file-description"><img alt="icon" src="//upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Issoria_lathonia.jpg/21px-Issoria_lathonia.jpg" decoding="async" width="21" height="15" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Issoria_lathonia.jpg/32px-Issoria_lathonia.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/2d/Issoria_lathonia.jpg/42px-Issoria_lathonia.jpg 2x" data-file-width="629" data-file-height="445" /></a></span> </span><a href="/wiki/Portal:Biology" title="Portal:Biology">Biology</a></li><li class="portal-bar-item"><span class="nowrap"><span typeof="mw:File"><span><img alt="icon" src="//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/WHO_Rod.svg/8px-WHO_Rod.svg.png" decoding="async" width="8" height="19" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/WHO_Rod.svg/12px-WHO_Rod.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/d/d6/WHO_Rod.svg/16px-WHO_Rod.svg.png 2x" data-file-width="107" data-file-height="250" /></span></span> </span><a href="/wiki/Portal:Medicine" title="Portal:Medicine">Medicine</a></li></ul></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q1472818" class="extiw" title="d:Q1472818">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#/D83">D83</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=279.06">279.06</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/607594">607594</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/240500">240500</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/613493">613493</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/613494">613494</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/613495">613495</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/613496">613496</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=D017074">D017074</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/ddb3274.htm">3274</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/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/ped/444-overview">ped/444</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/derm/topic870.htm#">derm/870</a></li><li><b><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></b>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/Common-Variable-Immunodeficiency">Common variable immunodeficiency</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1572">1572</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link 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