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.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">Hypogammaglobulinemia</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/Hematology" title="Hematology">Hematology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q1047559?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>Hypogammaglobulinemia</b> is an immune system disorder in which not enough <a href="/wiki/Gamma_globulin" title="Gamma globulin">gamma globulins</a> are produced in the blood (thus <i><a href="https://en.wiktionary.org/wiki/hypo-#Prefix_2" class="extiw" title="wikt:hypo-">hypo-</a></i> + <i>gamma</i> + <i><a href="/wiki/Globulin" title="Globulin">globulin</a></i> + <i><a href="https://en.wiktionary.org/wiki/-aemia#Suffix" class="extiw" title="wikt:-aemia">-emia</a></i>). This results in a lower <a href="/wiki/Antibody" title="Antibody">antibody</a> count, which impairs the <a href="/wiki/Immune_system" title="Immune system">immune system</a>, increasing risk of infection. Hypogammaglobulinemia may result from a variety of primary genetic immune system defects, such as <a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">common variable immunodeficiency</a>,<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> or it may be caused by secondary effects such as medication, blood cancer, or poor nutrition, or loss of gamma globulins in urine, as in nonselective glomerular proteinuria.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (July 2023)">medical citation needed</span></a></i>]</sup> Patients with hypogammaglobulinemia have reduced immune function; important considerations include avoiding use of <a href="/wiki/Live_vaccine" class="mw-redirect" title="Live vaccine">live vaccines</a>, and take precautionary measures when traveling to regions with <a href="/wiki/Endemic_disease" class="mw-redirect" title="Endemic disease">endemic disease</a> or poor sanitation such as receiving immunizations, taking antibiotics abroad, drinking only safe or boiled water, arranging appropriate medical cover in advance of travel, and ensuring continuation of any immunoglobulin infusions needed.<sup id="cite_ref-eight_2-0" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Types">Types</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=1" title="Edit section: Types"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The following lists types of "agammaglobulinemia" catalogued in the OMIM. Hypogammaglobulinemia can have other types; see sections "Causes" and "Etymology" below. </p> <table class="wikitable"> <tbody><tr> <th>Type </th> <th><a href="/wiki/OMIM" class="mw-redirect" title="OMIM">OMIM</a> </th> <th>Gene </th></tr> <tr> <td>AGM1 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/601495">601495</a> </td> <td><i><a href="/wiki/IGHM" title="IGHM">IGHM</a></i> </td></tr> <tr> <td>AGM2 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613500">613500</a> </td> <td><i><a href="/wiki/IGLL1" title="IGLL1">IGLL1</a></i> </td></tr> <tr> <td>AGM3 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613501">613501</a> </td> <td><i><a href="/wiki/CD79A" title="CD79A">CD79A</a></i> </td></tr> <tr> <td>AGM4 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613502">613502</a> </td> <td><i><a href="/wiki/BLNK" class="mw-redirect" title="BLNK">BLNK</a></i> </td></tr> <tr> <td>AGM5 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/613506">613506</a> </td> <td><i><a href="/wiki/LRRC8A" title="LRRC8A">LRRC8A</a></i> </td></tr> <tr> <td>AGM6 </td> <td><a rel="nofollow" class="external text" href="https://omim.org/entry/612692">612692</a> </td> <td><i><a href="/wiki/CD79B" title="CD79B">CD79B</a></i> </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Symptoms_and_signs">Symptoms and signs</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=2" title="Edit section: Symptoms and signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The presenting feature of hypogammaglobulinemia is usually a clinical history of recurrent, chronic, or atypical infections. These infections include but are not limited to: <a href="/wiki/Bronchitis" title="Bronchitis">bronchitis</a>, <a href="/wiki/Otitis" title="Otitis">ear infections</a>, <a href="/wiki/Meningitis" title="Meningitis">meningitis</a>, <a href="/wiki/Pneumonia" title="Pneumonia">pneumonia</a>, <a href="/wiki/Sinusitis" title="Sinusitis">sinus infections</a>, and <a href="/wiki/Skin_infections" class="mw-redirect" title="Skin infections">skin infections</a>. Such infections can potentially damage organs, leading to severe complications. Other symptoms of hypogammaglobulinemia include chronic <a href="/wiki/Diarrhea" title="Diarrhea">diarrhea</a> and complications from receiving live vaccines. Certain symptoms of chronic damage may be related to recurrent infection. For example, <a href="/wiki/Shortness_of_breath" title="Shortness of breath">shortness of breath</a>, chronic cough, and sputum production may indicate the presence of <a href="/wiki/Bronchiectasis" title="Bronchiectasis">bronchiectasis</a>. Sinus pain, nasal discharge, and <a href="/wiki/Post-nasal_drip" title="Post-nasal drip">postnasal drip</a> may indicate the presence of <a href="/wiki/Chronic_sinusitis" class="mw-redirect" title="Chronic sinusitis">chronic sinusitis</a>. Diarrhea and <a href="/wiki/Steatorrhea" title="Steatorrhea">steatorrhea</a> may indicate <a href="/wiki/Malabsorption" title="Malabsorption">malabsorption</a>.<sup id="cite_ref-eight_2-1" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Another sign or symptom that may occur in patients is blotchiness of the skin color, especially noticed above the waist, on the arms, neck, and upper chest areas, however, it may occur anywhere on the skin.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (June 2021)">medical citation needed</span></a></i>]</sup> </p><p>Babies with transient hypogammaglobulinemia (THI) usually become symptomatic 6 to 12 months after birth, with the symptoms usually consisting of frequent ear, sinus, and lung infections. Other symptoms include <a href="/wiki/Respiratory_tract_infection" title="Respiratory tract infection">respiratory tract infections</a>, <a href="/wiki/Food_allergy" title="Food allergy">food allergies</a>, <a href="/wiki/Dermatitis" title="Dermatitis">eczema</a>, <a href="/wiki/Urinary_tract_infection" title="Urinary tract infection">urinary tract infections</a>, and intestinal infections.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (July 2023)">medical citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=3" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Hypogammaglobulinemia can be caused by either a <a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">primary</a> or <a href="/wiki/Secondary_immunodeficiences" class="mw-redirect" title="Secondary immunodeficiences">secondary</a> immunodeficiency. Primary immunodeficiencies are caused by a <a href="/wiki/Mutation" title="Mutation">mutation</a> or series of mutations to the genome.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (July 2023)">medical citation needed</span></a></i>]</sup> For example, a study from 2012 found that a compound <a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a> deleterious mutation in the <a href="/wiki/Complement_receptor_2" title="Complement receptor 2">CD21</a> gene is associated with hypogammaglobulinemia. Genetic analysis revealed the patient was heterozygous for CD21, with the paternally inherited <a href="/wiki/Allele" title="Allele">allele</a> (also shared with one sister) having a disrupted splicing donor site at exon 6, while the maternally inherited allele had a mutation resulting in a <a href="/wiki/Premature_stop_codon" class="mw-redirect" title="Premature stop codon">premature stop codon</a> in exon 13. Neither mutation was found in 100 healthy control subjects, showing the rarity of the mutations.<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>Around 300 different genes have been identified which account for different forms of <a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">primary immunodeficiency</a> (PID). These different forms can affect different parts of the immune system, including immunoglobulin production. Primary immunodeficiencies usually have a delay of several years between initial clinical presentation and diagnosis. Some primary immune deficiencies include <a href="/wiki/Ataxia-telangiectasia" class="mw-redirect" title="Ataxia-telangiectasia">ataxia-telangiectasia</a> (A-T), autosomal recessive agammaglobulinemia (ARA), <a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">common variable immunodeficiency</a> (CVID), <a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">hyper-IgM syndromes</a>, <a href="/wiki/IgG_deficiency" title="IgG deficiency">IgG subclass deficiency</a>, isolated non-IgG immunoglobulin deficiencies, <a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">severe combined immunodeficiency</a> (SCID), specific antibody deficiency (SAD), <a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott-Aldrich syndrome</a>, or <a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a>. CVID is the most common form of primary immunodeficiency. SCID is considered a medical emergency and suspected cases require immediate specialist center referral for diagnosis and treatment. </p><p>It is more often that hypogammaglobulinemia develops as a result of another condition, which are called secondary or acquired immune deficiencies. These include blood cancers such as <a href="/wiki/Chronic_lymphocytic_leukemia" title="Chronic lymphocytic leukemia">chronic lymphocytic leukemia</a> (CLL), <a href="/wiki/Lymphoma" title="Lymphoma">lymphoma</a>, or <a href="/wiki/Multiple_myeloma" title="Multiple myeloma">myeloma</a>, <a href="/wiki/HIV" title="HIV">HIV</a>, <a href="/wiki/Nephrotic_syndrome" title="Nephrotic syndrome">nephrotic syndrome</a>, poor nutrition, <a href="/wiki/Protein_losing_enteropathy" title="Protein losing enteropathy">protein-losing enteropathy</a>, getting an <a href="/wiki/Organ_transplantation" title="Organ transplantation">organ transplant</a>, or <a href="/wiki/Radiation_therapy" title="Radiation therapy">radiation therapy</a>. This also includes medications which can cause hypogammaglobulinemia, such as <a href="/wiki/Corticosteroid" title="Corticosteroid">corticosteroids</a>, <a href="/wiki/Chemotherapy" title="Chemotherapy">chemotherapy</a> drugs, or <a href="/wiki/Anticonvulsant" title="Anticonvulsant">antiseizure</a> medication.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Identifying_reliable_sources_(medicine)" title="Wikipedia:Identifying reliable sources (medicine)"><span title="Material near this tag needs references to reliable medical sources. (July 2023)">medical citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Screening">Screening</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=4" title="Edit section: Screening"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Screening of immunoglobulin levels in relatives of CVID and IgA patients finds a familial inheritance rate of 10% to 20%. In cases where a carrier of such a mutation would like to have children, <a href="/wiki/Preimplantation_genetic_diagnosis" title="Preimplantation genetic diagnosis">preimplantation genetic diagnosis</a> (PGD) has been offered.<sup id="cite_ref-eight_2-2" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> PGD is defined as the testing of pre-implantation stage embryos or oocytes for genetic defects. It requires <a href="/wiki/In_vitro_fertilisation" title="In vitro fertilisation">in vitro fertilization</a>, embryo biopsy, and either <a href="/wiki/Fluorescence_in_situ_hybridization" title="Fluorescence in situ hybridization">fluorescent in situ hybridization</a> or <a href="/wiki/Polymerase_chain_reaction" title="Polymerase chain reaction">polymerase chain reaction</a> on a singular cell, making it a complex procedure. While some question the ethicality of such artificial selection, it is generally seen as an important alternative to prenatal diagnosis.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Prevention of secondary immunodeficiency involves monitoring patients carefully with high risk of developing hypogammaglobulinemia. This entails measuring immunoglobulin levels in patients with hematologic malignancy, or those receiving chemotherapy or immunosuppressive therapy such as <a href="/wiki/Rituximab" title="Rituximab">rituximab</a>.<sup id="cite_ref-eight_2-3" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=5" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Protocols for different forms of primary immunodeficiency vary significantly. The aim of treatments implemented by specialist centers is usually to reduce the risk of complications. One method of treatment is by <a href="/wiki/Parenteral" class="mw-redirect" title="Parenteral">parenteral</a> administration of gamma globulins, either monthly <a href="/wiki/Intravenous_therapy" title="Intravenous therapy">intravenously</a>, <a href="/wiki/Subcutaneous_injection" class="mw-redirect" title="Subcutaneous injection">subcutaneously</a>, or more recently, by weekly self-administered <a href="/wiki/Hypodermoclysis" class="mw-redirect" title="Hypodermoclysis">hypodermoclysis</a>. In either case, mild allergic reactions are common, and are usually manageable with oral <a href="/wiki/Diphenhydramine" title="Diphenhydramine">diphenhydramine</a>. Evidence comparing immunoglobulin replacement with no treatment is limited, and guidelines for treatment are therefore mainly derived from <a href="/wiki/Observational_study" title="Observational study">observational studies</a>. <a href="/wiki/Antibiotic" title="Antibiotic">Antibiotics</a> are also frequently used as treatment. Other standard forms of treatment include a form of <a href="/wiki/Enzyme_replacement_therapy" title="Enzyme replacement therapy">enzyme replacement therapy</a> called PEG-ADA, and antibiotic treatment given for the prevention of <a href="/wiki/Pneumocystis_pneumonia" title="Pneumocystis pneumonia">Pneumocystis pneumonia</a>.<sup id="cite_ref-eight_2-4" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>One emerging therapy is <a href="/wiki/Hematopoietic_stem_cell_transplantation" title="Hematopoietic stem cell transplantation">hematopoietic stem cell transplantation</a>, which has been considered standard treatment for many combined primary immunodeficiencies including SCID, CD40 deficiency, CD40 ligand deficiency, and Wiskott-Aldrich syndrome, but has been extended to secondary immunodeficiencies over the last two decades.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Another emerging therapy is <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>, which has been used to treat X-linked SCID, SCID due to <a href="/wiki/Adenosine_deaminase_deficiency" title="Adenosine deaminase deficiency">adenosine deaminase deficiency</a>, and <a href="/wiki/Chronic_granulomatous_disease" title="Chronic granulomatous disease">chronic granulomatous disease</a>.<sup id="cite_ref-eight_2-5" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=6" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Early detection and treatment of hypogammaglobulinemia is known to reduce rates of <a href="/wiki/Morbidity" class="mw-redirect" title="Morbidity">morbidity</a> and the chance of long-term pulmonary complications. Evidence shows that there is an association between achieving higher IgG levels and reduced infection frequency.<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> If hypogammaglobulinemia remains undetected and untreated, outcomes are generally poor, especially if chronic lung damage or bronchiectasis has occurred. Unfortunately, the diagnosis of hypogammaglobulinemia is often significantly delayed.<sup id="cite_ref-eight_2-6" class="reference"><a href="#cite_note-eight-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </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=Hypogammaglobulinemia&action=edit&section=7" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In 2015, a journal article by McDermott et al. reported on a case in which <a href="/wiki/Chromothripsis" title="Chromothripsis">chromothripsis</a>, normally a catastrophic event in which chromosomes undergo massive deletion and rearrangement within a single stem cell's DNA, cured a patient with <a href="/wiki/WHIM_syndrome" title="WHIM syndrome">WHIM syndrome</a>, a primary immunodeficiency disease. WHIM is <a href="/wiki/Dominance_(genetics)" title="Dominance (genetics)">autosomal dominant</a> and is caused by a <a href="/wiki/Gain-of-function_mutation" class="mw-redirect" title="Gain-of-function mutation">gain-of-function mutation</a> of the <a href="/wiki/Chemokine" title="Chemokine">chemokine</a> receptor CXCR4. The mutation in CXCR4 increases signaling because it disrupts negative regulatory elements usually present, creating exaggerated functions of the receptor. The term "WHIM" is an acronym for the main manifestations of the disease: warts, hypogammaglobulinemia, recurrent infections, and <a href="/wiki/Myelokathexis" title="Myelokathexis">myelokathexis</a>. Myelokathexis is impaired escape of mature <a href="/wiki/Neutrophil" title="Neutrophil">neutrophils</a> from bone marrow, causing <a href="/wiki/Neutropenia" title="Neutropenia">neutropenia</a>. Patients with WHIM syndrome have severely reduced peripheral blood B cells and some reduction in peripheral blood T cells and <a href="/wiki/Monocyte" title="Monocyte">monocytes</a> (McDermott). The cured patient, designated WHIM-09, is a white female presented at age 58. She also presented with her two daughters, WHIM-10 (age 21) and WHIM-11 (age 23). Both daughters fulfilled all of the clinical criteria for WHIM syndrome, while WHIM-09 did not. She reported that she had had many serious infections from childhood until age 38 but had had none in the past 20 years. She has fulfilled none of the criteria for WHIM syndrome except for mild hypogammaglobulinemia since then. WHIM-09 was the first patient ever described with myelokathexis, the "M" in WHIM syndrome, and her parents and siblings showed no sign of the syndrome. Therefore, the evidence is compatible with a WHIM mutation occurring de novo in patient WHIM-09, an autosomal dominant transition to two of her three daughters, and a spontaneous and complete remission in WHIM-09. This provides the first evidence that chromothripsis may result in clinical benefit, in particular, the cure of a genetic disease. If a cell with chromothripsis dies, it is clinically undetectable, making the true frequency of its occurrence hard to determine. Therefore, it is only detected if it acquires a strong selective advantage creating a clinically apparent clonal population harboring the same pattern of deletions and arrangements. This results in either cancer, or if the location is fortuitous, the cure of a genetic condition as occurred in patient WHIM-09.<sup id="cite_ref-7" class="reference"><a href="#cite_note-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Effect_on_viral_evolution">Effect on viral evolution</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=8" title="Edit section: Effect on viral evolution"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>One study of the genomic variation in the <a href="/wiki/Hepatitis_C" title="Hepatitis C">hepatitis C</a> virus in patients with and without hypogammaglobulinemia found that patients with hypogammaglobulinemia had fewer <a href="/wiki/Nucleotide" title="Nucleotide">nucleotide</a> substitutions per year than the control patients, suggesting that in the absence of selective pressure caused by the immune system, the frequency of the occurrence of genetic variation in the major viral species is reduced. They used five control patients and four patients with CVID, a particularly severe form of hypogammaglobulinemia. The control patients had a mean nucleotide <a href="/wiki/Mutation_rate" title="Mutation rate">rate-of-change</a> of 6.954 nucleotide substitutions per year while the patients with CVID had 0.415 nucleotide substitutions per year. While the mutations still occur in the patients with CVID, they tend to remain as a minor species in the absence of immune selection.<sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Terminology">Terminology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=9" title="Edit section: Terminology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "<a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a>") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,<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> but the distinction is not usually clinically relevant. </p><p>"Hypogammaglobulinemia" is distinguished from <a href="/wiki/Dysgammaglobulinemia" title="Dysgammaglobulinemia">dysgammaglobulinemia</a>, which is a reduction in some types of <a href="/wiki/Gamma_globulin" title="Gamma globulin">gamma globulins</a>, but not others.<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> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=10" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles: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"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-1">^</a></b></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20090628224336/http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/four/000052585.htm">"common variable immunodeficiency"</a> at <i><a href="/wiki/Dorland%27s_medical_reference_works" title="Dorland's medical reference works">Dorland's Medical Dictionary</a></i></span> </li> <li id="cite_note-eight-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-eight_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-eight_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-eight_2-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-eight_2-3"><sup><i><b>d</b></i></sup></a> <a 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(1998). <a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fhep.510270134">"Comparison of the rate of sequence variation in the hypervariable region of E2/NS1 region of hepatitis C virus in normal and hypogammaglobulinemic patients"</a>. <i>Hepatology</i>. <b>27</b> (1): 223–227. <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/10.1002%2Fhep.510270134">10.1002/hep.510270134</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/9425941">9425941</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:28147132">28147132</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Hepatology&rft.atitle=Comparison+of+the+rate+of+sequence+variation+in+the+hypervariable+region+of+E2%2FNS1+region+of+hepatitis+C+virus+in+normal+and+hypogammaglobulinemic+patients&rft.volume=27&rft.issue=1&rft.pages=223-227&rft.date=1998&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A28147132%23id-name%3DS2CID&rft_id=info%3Apmid%2F9425941&rft_id=info%3Adoi%2F10.1002%2Fhep.510270134&rft.aulast=Booth&rft.aufirst=Jonathan+C.&rft.au=Kumar%2C+Umesh&rft.au=Webster%2C+David&rft.au=Monjardino%2C+John&rft.au=Thomas%2C+Howard+C.&rft_id=https%3A%2F%2Fdoi.org%2F10.1002%252Fhep.510270134&rfr_id=info%3Asid%2Fen.wikipedia.org%3AHypogammaglobulinemia" class="Z3988"></span></span> </li> <li id="cite_note-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-9">^</a></b></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20090628224336/http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/one/000002160.htm">"agammaglobulinemia"</a> at <i><a href="/wiki/Dorland%27s_medical_reference_works" title="Dorland's medical reference works">Dorland's Medical Dictionary</a></i></span> </li> <li id="cite_note-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-10">^</a></b></span> <span class="reference-text"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20090628224336/http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/three/000033050.htm">"Dysgammaglobulinemia"</a> at <i><a href="/wiki/Dorland%27s_medical_reference_works" title="Dorland's medical reference works">Dorland's Medical Dictionary</a></i></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Hypogammaglobulinemia&action=edit&section=11" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin refbegin-columns references-column-width" style="column-width: 30em"> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRoseLang2006" class="citation journal cs1">Rose, Mark E.; Lang, David M. (February 2006). <a rel="nofollow" class="external text" href="https://www.ccjm.org/content/73/2/133">"Evaluating and managing hypogammaglobulinemia"</a>. <i><a href="/wiki/Cleveland_Clinic_Journal_of_Medicine" title="Cleveland Clinic Journal of Medicine">Cleveland Clinic Journal of Medicine</a></i>. <b>73</b> (2): 133–144. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.3949%2Fccjm.73.2.133">10.3949/ccjm.73.2.133</a>. <a href="/wiki/EISSN_(identifier)" class="mw-redirect" title="EISSN (identifier)">eISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1939-2869">1939-2869</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/0891-1150">0891-1150</a>. <a href="/wiki/LCCN_(identifier)" class="mw-redirect" title="LCCN (identifier)">LCCN</a> <a rel="nofollow" class="external text" href="https://lccn.loc.gov/87640278">87640278</a>. <a href="/wiki/OCLC_(identifier)" class="mw-redirect" title="OCLC (identifier)">OCLC</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/oclc/14576751">14576751</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16478038">16478038</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:21728717">21728717</a></span>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20211205064641/https://www.ccjm.org/content/73/2/133">Archived</a> from the original on 5 December 2021<span class="reference-accessdate">. Retrieved <span class="nowrap">31 May</span> 2022</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Cleveland+Clinic+Journal+of+Medicine&rft.atitle=Evaluating+and+managing+hypogammaglobulinemia&rft.volume=73&rft.issue=2&rft.pages=133-144&rft.date=2006-02&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A21728717%23id-name%3DS2CID&rft.eissn=1939-2869&rft_id=info%3Adoi%2F10.3949%2Fccjm.73.2.133&rft_id=info%3Aoclcnum%2F14576751&rft.issn=0891-1150&rft_id=info%3Alccn%2F87640278&rft_id=info%3Apmid%2F16478038&rft.aulast=Rose&rft.aufirst=Mark+E.&rft.au=Lang%2C+David+M.&rft_id=https%3A%2F%2Fwww.ccjm.org%2Fcontent%2F73%2F2%2F133&rfr_id=info%3Asid%2Fen.wikipedia.org%3AHypogammaglobulinemia" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSecordPansareSeth2018" class="citation journal cs1">Secord, Elizabeth A.; Pansare, Milind; Seth, Divya (26 December 2018). Kaliner, Michael A.; Talavera, Francisco; Simon, Michael R. (eds.). <span class="id-lock-registration" title="Free registration required"><a rel="nofollow" class="external text" href="https://emedicine.medscape.com/article/136471-overview">"Hypogammaglobulinemia"</a></span>. Allergy & Immunology. <i><a href="/wiki/Medscape" title="Medscape">Medscape</a></i>. <a href="/wiki/WebMD" title="WebMD">WebMD</a>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20220522062045/https://emedicine.medscape.com/article/136471-overview">Archived</a> from the original on 22 May 2022<span class="reference-accessdate">. Retrieved <span class="nowrap">31 May</span> 2022</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Medscape&rft.atitle=Hypogammaglobulinemia&rft.date=2018-12-26&rft.aulast=Secord&rft.aufirst=Elizabeth+A.&rft.au=Pansare%2C+Milind&rft.au=Seth%2C+Divya&rft_id=https%3A%2F%2Femedicine.medscape.com%2Farticle%2F136471-overview&rfr_id=info%3Asid%2Fen.wikipedia.org%3AHypogammaglobulinemia" class="Z3988"></span></li></ul> </div> <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=Hypogammaglobulinemia&action=edit&section=12" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid 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.navbox{display:none!important}}</style><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><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/Q1047559" class="extiw" title="d:Q1047559">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D80.0">D80.0</a>-<a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D80.1">D80.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=279.00">279.00</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=D000361">D000361</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/ddb6426.htm">6426</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001307.htm">001307</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/1120-overview">med/1120</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/ped/topic54.htm#">ped/54</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/Hypogammaglobulinaemia">Hypogammaglobulinemia</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Lymphoid_and_complement_immunodeficiency" title="Template:Lymphoid and complement immunodeficiency"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Lymphoid_and_complement_immunodeficiency" title="Template talk:Lymphoid and complement immunodeficiency"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Lymphoid_and_complement_immunodeficiency" title="Special:EditPage/Template:Lymphoid and complement immunodeficiency"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="font-size:114%;margin:0 4em"><a href="/wiki/Lymphatic_system" title="Lymphatic system">Lymphoid</a> and <a href="/wiki/Complement_system" title="Complement system">complement</a> disorders causing <a href="/wiki/Immunodeficiency" title="Immunodeficiency">immunodeficiency</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">Primary</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Antibody" title="Antibody">Antibody</a>/<a href="/wiki/Humoral_immune_deficiency" title="Humoral immune deficiency">humoral</a><br />(<a href="/wiki/B_cell" title="B cell">B</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a class="mw-selflink selflink">Hypogammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Transient_hypogammaglobulinemia_of_infancy" title="Transient hypogammaglobulinemia of infancy">Transient hypogammaglobulinemia of infancy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dysgammaglobulinemia" title="Dysgammaglobulinemia">Dysgammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">IgA deficiency</a></li> <li><a href="/wiki/IgG_deficiency" title="IgG deficiency">IgG deficiency</a></li> <li><a href="/wiki/Immunoglobulin_M_deficiency" class="mw-redirect" title="Immunoglobulin M deficiency">IgM deficiency</a></li> <li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_2" title="Hyper-IgM syndrome type 2">2</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">3</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_4" title="Hyper-IgM syndrome type 4">4</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_5" title="Hyper-IgM syndrome type 5">5</a>)</li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyper-IgE syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">Common variable immunodeficiency</a></li> <li><a href="/wiki/ICF_syndrome" class="mw-redirect" title="ICF syndrome">ICF syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/T_cell_deficiency" title="T cell deficiency">T cell deficiency</a><br />(<a href="/wiki/T_cell" title="T cell">T</a>)</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thymic_hypoplasia" title="Thymic hypoplasia">thymic hypoplasia</a>:</i> <i>hypoparathyroid</i> (<a href="/wiki/DiGeorge_syndrome" title="DiGeorge syndrome">Di George's syndrome</a>)</li> <li><i>euparathyroid</i> (<a href="/wiki/Nezelof_syndrome" title="Nezelof syndrome">Nezelof syndrome</a></li> <li><a href="/wiki/Ataxia%E2%80%93telangiectasia" title="Ataxia–telangiectasia">Ataxia–telangiectasia</a>)</li></ul> <p><i>peripheral:</i> <a href="/wiki/Purine_nucleoside_phosphorylase_deficiency" title="Purine nucleoside phosphorylase deficiency">Purine nucleoside phosphorylase deficiency</a> </p> <ul><li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">Severe</a> <a href="/wiki/Combined_immunodeficiencies" title="Combined immunodeficiencies">combined</a><br />(B+T)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>x-linked:</i> <a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-SCID</a><br /><i>autosomal:</i> <a 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="Disorders_of_globin_and_globulin_proteins" 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:Disorders_of_globin_and_globulin_proteins" title="Template:Disorders of globin and globulin proteins"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Disorders_of_globin_and_globulin_proteins" title="Template talk:Disorders of globin and globulin proteins"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Disorders_of_globin_and_globulin_proteins" title="Special:EditPage/Template:Disorders of globin and globulin proteins"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Disorders_of_globin_and_globulin_proteins" style="font-size:114%;margin:0 4em">Disorders of <a href="/wiki/Globin" title="Globin">globin</a> and <a href="/wiki/Globulin" title="Globulin">globulin</a> proteins</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Globin</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/Hemoglobinopathy" title="Hemoglobinopathy">Hemoglobinopathy</a> <ul><li><a href="/wiki/Thalassemia" title="Thalassemia">Thalassemia</a></li> <li><a href="/wiki/Alpha-thalassemia" title="Alpha-thalassemia">alpha</a></li> <li><a href="/wiki/Beta_thalassemia" title="Beta thalassemia">beta</a></li> <li><a href="/wiki/Delta-beta_thalassemia" title="Delta-beta thalassemia">delta</a></li></ul></li> <li><a href="/wiki/Sickle-cell_disease" class="mw-redirect" title="Sickle-cell disease">Sickle-cell disease</a> <ul><li><a href="/wiki/Sickle_cell_trait" title="Sickle cell trait">trait</a></li></ul></li> <li><a href="/wiki/Hereditary_persistence_of_fetal_hemoglobin" title="Hereditary persistence of fetal hemoglobin">HPFH</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Globulin</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/IGHM" title="IGHM">IGHM</a>: <a class="mw-selflink selflink">AGM1</a></li></ul> <ul><li><a href="/wiki/IGLL1" title="IGLL1">IGLL1</a>: <a class="mw-selflink selflink">AGM2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Serpin" title="Serpin">Serpin</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/Serpin" title="Serpin">Serpinopathy</a>: <a href="/wiki/Alpha-1_antitrypsin_deficiency" title="Alpha-1 antitrypsin deficiency">Alpha-1 antitrypsin deficiency</a></li> <li><a href="/wiki/Antithrombin_III_deficiency" title="Antithrombin III deficiency">Antithrombin III deficiency</a></li> <li><a href="/wiki/Hereditary_angioedema" title="Hereditary angioedema">Hereditary angioedema</a></li> <li><a href="/wiki/Familial_encephalopathy_with_neuroserpin_inclusion_bodies" title="Familial encephalopathy with neuroserpin inclusion bodies">FENIB</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div>See also <ul><li><a href="/wiki/Template:Globular_proteins" title="Template:Globular proteins">globular proteins</a></li> <li><a href="/wiki/Template:Hemeproteins" title="Template:Hemeproteins">globins</a></li> <li><a href="/wiki/Template:Antibodies" title="Template:Antibodies">antibodies</a></li> <li><a href="/wiki/Template:Serpins" title="Template:Serpins">serpins</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 href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID4</a>)</li> <li><i><a href="/wiki/TNFRSF13B" class="mw-redirect" title="TNFRSF13B">TNFRSF13B</a></i> (<a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">CVID2</a>)</li> <li><i><a href="/wiki/Fas_receptor" title="Fas receptor">TNFRSF6</a></i> (<a href="/wiki/Autoimmune_lymphoproliferative_syndrome" title="Autoimmune lymphoproliferative syndrome">Autoimmune lymphoproliferative syndrome 1A</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lipid receptor</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipoprotein_receptor-related_protein" title="Lipoprotein receptor-related protein">LRP</a>: <i><a href="/wiki/LRP2" title="LRP2">LRP2</a></i> (<a href="/wiki/Donnai%E2%80%93Barrow_syndrome" title="Donnai–Barrow syndrome">Donnai–Barrow syndrome</a>)</li> <li><i><a href="/wiki/Low_density_lipoprotein_receptor-related_protein_4" class="mw-redirect" title="Low density lipoprotein receptor-related protein 4">LRP4</a></i> (<a href="/wiki/Cenani%E2%80%93Lenz_syndactylism" title="Cenani–Lenz syndactylism">Cenani–Lenz syndactylism</a>)</li> <li><i><a href="/wiki/LRP5" title="LRP5">LRP5</a></i> (<a href="/wiki/Worth_syndrome" title="Worth syndrome">Worth syndrome</a>, <a href="/wiki/Familial_exudative_vitreoretinopathy" title="Familial exudative vitreoretinopathy">Familial exudative vitreoretinopathy 4</a>, <a href="/wiki/Osteopetrosis" title="Osteopetrosis">Osteopetrosis 1</a>)</li></ul> <ul><li><i><a href="/wiki/LDL_receptor" title="LDL receptor">LDLR</a></i> (<a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">LDLR Familial hypercholesterolemia</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other/ungrouped</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Immunoglobulin_superfamily" title="Immunoglobulin superfamily">Immunoglobulin superfamily</a>: <a class="mw-selflink selflink">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>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" 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