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<span>Common variable immune deficiency</span>
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<span class="page-url print-only">URL of this page: https://medlineplus.gov/genetics/condition/common-variable-immune-deficiency/</span>
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<h1>Common variable immune deficiency</h1>
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<h2>Description</h2>
<section><div class="mp-content"><p>Common variable immune deficiency (CVID) is a disorder that impairs the immune system. People with CVID are highly susceptible to infection from foreign invaders such as bacteria, or more rarely, viruses and often develop recurrent infections, particularly in the <a class="image-modal" data-alt="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown." data-caption="Anatomy of the respiratory system, showing the trachea and both lungs and their lobes and airways. Lymph nodes and the diaphragm are also shown. Oxygen is inhaled into the lungs and passes through the thin membranes of the alveoli and into the bloodstream (see inset)." data-credit="© 2006 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00024F_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00024F" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7235" data-title="Respiratory system" href="https://medlineplus.gov/images/PX00024F_PRESENTATION.jpeg" id="PX00024F_1" title="Show image">lungs<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, <a class="image-modal" data-alt="Anatomy of the paranasal sinuses (spaces between the bones around the nose) and nearby facial structures." data-caption="Anatomy of the paranasal sinuses (spaces between the bones around the nose)." data-credit="© 2012 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX00027Z_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00027Z" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=9262" data-title="Paranasal sinuses" href="https://medlineplus.gov/images/PX00027Z_PRESENTATION.jpeg" id="PX00027Z_2" title="Show image">sinuses<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, and <a class="image-modal" data-alt="Basic anatomy of the ear, from the outer ear to the inner ear" data-caption="" data-credit="Blamb/Shutterstock.com" data-filepath="images/PX000170_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000170" data-sourceurl="" data-title="Anatomy of a normal ear" href="https://medlineplus.gov/images/PX000170_PRESENTATION.jpeg" id="PX000170_3" title="Show image">ears<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Pneumonia is common in people with CVID. Over time, recurrent infections can lead to chronic lung disease. Affected individuals may also experience infection or inflammation of the <a class="image-modal" data-alt="Anatomy of the lower digestive system, showing the colon, small intestine, rectum, and other organs." data-caption="Anatomy of the lower digestive system, showing the colon and other organs." data-credit="© 2011 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001VQ_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001VQ" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7179" data-title="Lower gastrointestinal tract" href="https://medlineplus.gov/images/PX0001VQ_PRESENTATION.jpeg" id="PX0001VQ_4" title="Show image">gastrointestinal tract<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged <a class="image-modal" data-alt="Anatomy of the male urinary system (left panel) and female urinary system (right panel) showing the kidneys, ureters, bladder, and urethra." data-caption="Anatomy of the lymph system, showing the lymph vessels and lymph organs including lymph nodes, tonsils, thymus, spleen, and bone marrow. Lymph (clear fluid) and lymphocytes travel through the lymph vessels and into the lymph nodes where the lymphocytes destroy harmful substances. The lymph enters the blood through a large vein near the heart." data-credit="© 2007 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001VU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001VU" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=7154" data-title="Lymphatic system" href="https://medlineplus.gov/images/PX0001VU_PRESENTATION.jpeg" id="PX0001VU_5" title="Show image">lymph nodes<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.</p><p>Approximately 25 percent of people with CVID have an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's tissues and organs. The blood cells are most frequently affected by autoimmune attacks in CVID; the most commonly occurring autoimmune disorders are <a data-pid="16637" href="https://medlineplus.gov/genetics/condition/immune-thrombocytopenia/">immune thrombocytopenia</a>, which is an abnormal bleeding disorder caused by a decrease in cells involved in blood clotting called platelets, and autoimmune hemolytic anemia, which results in premature destruction of <a class="image-modal" data-alt="Diagram of blood cells, showing one sample with normal blood and another with a smaller number of red blood cells, indicating anemia" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0001AS_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001AS" data-sourceurl="" data-title="Anemia" href="https://medlineplus.gov/images/PX0001AS_PRESENTATION.jpeg" id="PX0001AS_7" title="Show image">red blood cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. Other autoimmune disorders such as <a data-pid="16181" href="https://medlineplus.gov/genetics/condition/rheumatoid-arthritis/">rheumatoid arthritis</a> can occur. Individuals with CVID also have a greater than normal risk of developing certain types of cancer, including a cancer of immune system cells called <a class="image-modal" data-alt="Cancerous lymphoma cells are found in one lymph node." data-caption="Stage I adult non-Hodgkin lymphoma. Cancer is found in one lymphatic area (lymph nodes, tonsils, thymus, or spleen). In stage IE (not shown), cancer is found in one organ or area outside the lymph nodes." data-credit="© 2009 Terese Winslow LLC for the National Cancer Institute" data-filepath="images/PX0001WU_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0001WU" data-sourceurl="https://visualsonline.cancer.gov/details.cfm?imageid=8275" data-title="Non-Hodgkin lymphoma, stage I" href="https://medlineplus.gov/images/PX0001WU_PRESENTATION.jpeg" id="PX0001WU_9" title="Show image">non-Hodgkin lymphoma<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> and less frequently, stomach (gastric) cancer.</p><p>People with CVID may start experiencing signs and symptoms of the disorder anytime between childhood and adulthood; most people with CVID are diagnosed in their twenties or thirties. The life expectancy of individuals with CVID varies depending on the severity and frequency of illnesses they experience. Most people with CVID live into adulthood.</p><p>There are many different types of CVID that are distinguished by genetic cause. People with the same type of CVID may have varying signs and symptoms.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="frequency">
<h2>Frequency</h2>
<section><div class="mp-content"><p>CVID is estimated to affect 1 in 25,000 to 1 in 50,000 people worldwide, although the prevalence can vary across different populations.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="causes">
<h2>Causes</h2>
<section><div class="mp-content"><p>The cause in CVID is unknown in approximately 90 percent of cases. It is likely that this condition is caused by both environmental and genetic factors. While the specific environmental factors are unclear, the genetic influences in CVID are believed to be mutations in genes that are involved in the development and function of immune system cells called <a class="image-modal" data-alt="Illustrations of a B-cell, a T-cell, IgE antibodies, and a macrophage. The macrophage is engulfing an organism." data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX0000X4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000X4" data-sourceurl="" data-title="Immune system cell: macrophage, t-cell, b-cell and antibodies" href="https://medlineplus.gov/images/PX0000X4_PRESENTATION.jpeg" id="PX0000X4_1" title="Show image">B cells<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>. B cells are specialized white blood cells that help protect the body against infection. When B cells mature, they produce special proteins called antibodies (also known as <a class="image-modal" data-alt="Schematic diagram of an immunoglobin molecule" data-caption="" data-credit="Designua/Shutterstock.com" data-filepath="images/PX00011O_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00011O" data-sourceurl="" data-title="Immunoglobulin molecule" href="https://medlineplus.gov/images/PX00011O_PRESENTATION.jpeg" id="PX00011O_2" title="Show image">immunoglobulins<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>). These proteins attach to foreign particles, marking them for destruction. Mutations in the genes associated with CVID result in dysfunctional B cells that cannot make sufficient amounts of antibodies.</p><p>In about 10 percent of cases, a genetic cause for CVID is known. Mutations in at least 13 genes have been associated with CVID. The most frequent mutations occur in the <i><a data-pid="18401" href="https://medlineplus.gov/genetics/gene/tnfrsf13b/">TNFRSF13B</a></i> gene. The protein produced from this gene plays a role in the survival and maturation of B cells and in the production of antibodies. <i>TNFRSF13B</i> gene mutations disrupt B cell function and antibody production, leading to immune dysfunction. Other genes associated with CVID are also involved in the function and maturation of immune system cells, particularly of B cells; mutations in these genes account for only a small percentage of cases.</p><p>All individuals with CVID have a shortage (deficiency) of two or three specific antibodies. Some have a deficiency of the antibodies called <a class="image-modal" data-alt="The structure of immunoglobulin G, including foreign particle binding sites." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX000050_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX000050" data-sourceurl="" data-title="Immunoglobulin G (IgG)" href="https://medlineplus.gov/images/PX000050_PRESENTATION.jpeg" id="PX000050_4" title="Show image">immunoglobulin G<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (IgG) and <a class="image-modal" data-alt="Illustration of an IgA molecule with the J-chain and secretory component labelled." data-caption="" data-credit="ellepigrafica/Shutterstock.com" data-filepath="images/PX0000OO_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000OO" data-sourceurl="" data-title="Structure of immunoglobulin A (IgA)" href="https://medlineplus.gov/images/PX0000OO_PRESENTATION.jpeg" id="PX0000OO_5" title="Show image">immunoglobulin A<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (IgA), while others, in addition to lacking IgG and IgA, are also deficient in <a class="image-modal" data-alt="An illustration of the structure of the IgM molecule." data-caption="" data-credit="ellepigrafica/Shutterstock.com" data-filepath="images/PX0000XK_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000XK" data-sourceurl="" data-title="Immunoglobulin M (IgM)" href="https://medlineplus.gov/images/PX0000XK_PRESENTATION.jpeg" id="PX0000XK_6" title="Show image">immunoglobulin M<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a> (IgM). A shortage of these antibodies makes it difficult for people with this disorder to fight off infections. Abnormal and deficient immune responses over time likely contribute to the increased cancer risk. In addition, vaccines for diseases such as measles and influenza do not provide protection for people with CVID because they cannot produce an antibody response.</p></div>
</section>
<section>
<div class="related-genes mp-exp exp-full">
<h3>Learn more about the gene associated with Common variable immune deficiency</h3>
<ul class="relatedmp">
<li><a href="https://medlineplus.gov/genetics/gene/tnfrsf13b/">TNFRSF13B</a></li>
</ul>
<p><strong>Additional Information from NCBI Gene:</strong></p>
<ul class="relatedmp">
<li><a href="https://www.ncbi.nlm.nih.gov/gene/930" target="TheNewWin">CD19</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/975" target="TheNewWin">CD81</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/1380" target="TheNewWin">CR2</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/29851" target="TheNewWin">ICOS</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/10320" target="TheNewWin">IKZF1</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/59067" target="TheNewWin">IL21</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/987" target="TheNewWin">LRBA</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/931" target="TheNewWin">MS4A1</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/4790" target="TheNewWin">NFKB1</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/4791" target="TheNewWin">NFKB2</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/5580" target="TheNewWin">PRKCD</a></li>
<li><a href="https://www.ncbi.nlm.nih.gov/gene/115650" target="TheNewWin">TNFRSF13C</a></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="inheritance">
<h2>Inheritance</h2>
<section><div class="mp- mp-content"><p>Most cases of CVID are sporadic and occur in people with no apparent history of the disorder in their family. These cases probably result from a complex interaction of environmental and genetic factors.</p><p>In rare cases, CVID is inherited in an <a class="image-modal" data-alt="Both parents carry one copy of a mutated gene. In the next generation, one child is affected with the condition, two children are carriers, and one is unaffected and not a carrier." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX0000A4_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX0000A4" data-sourceurl="" data-title="Autosomal recessive inheritance" href="https://medlineplus.gov/images/PX0000A4_PRESENTATION.jpeg" id="PX0000A4_1" title="Show image">autosomal recessive pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means both copies of a gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.</p><p>In a few cases, this condition is inherited in an <a class="image-modal" data-alt="A parent with an autosomal dominant condition passes the altered gene to two affected children. Two other children do not receive the altered gene, and are unaffected." data-caption="" data-credit="U.S. National Library of Medicine" data-filepath="images/PX00009C_PRESENTATION.jpeg" data-imgtype="genetics" data-pix="PX00009C" data-sourceurl="" data-title="Autosomal dominant inheritance" href="https://medlineplus.gov/images/PX00009C_PRESENTATION.jpeg" id="PX00009C_2" title="Show image">autosomal dominant pattern<img alt="" aria-hidden="true" class="image-modal-icon" src="https://medlineplus.gov/css/img/icon_camera_small.png"/></a>, which means one copy of an altered gene in each cell is sufficient to cause the disorder.</p><p>When CVID is caused by mutations in the <i><a data-pid="18401" href="https://medlineplus.gov/genetics/gene/tnfrsf13b/">TNFRSF13B</a></i> gene, it is often sporadic and the result of a new mutation in the gene that occurs during the formation of reproductive cells (eggs or sperm) or in early embryonic development. When <i>TNFRSF13B</i> gene mutations are inherited, they can cause either autosomal dominant CVID or autosomal recessive CVID.</p><p>Not all individuals who inherit a gene mutation associated with CVID will develop the disease. In many cases, affected children have an unaffected parent who has the same mutation. Additional genetic or environmental factors are likely needed for the disorder to occur.</p></div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="synonyms">
<h2>Other Names for This Condition</h2>
<section>
<ul class="bulletlist">
<li>Common variable hypogammaglobulinemia</li> <li>Common variable immunodeficiency</li> <li>CVID</li> <li>Immunodeficiency, common variable</li>
</ul>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="resources">
<h2>Additional Information & Resources</h2>
<section>
<div class="mp-content">
<h2>Genetic Testing Information</h2>
<ul>
<li><a href="https://www.ncbi.nlm.nih.gov/gtr/conditions/C0009447/" target="TheNewWin">Genetic Testing Registry: Common variable immunodeficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Genetic and Rare Diseases Information Center</h2>
<ul>
<li><a href="https://rarediseases.info.nih.gov/diseases/6140/index" target="TheNewWin">Common variable immunodeficiency</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Patient Support and Advocacy Resources</h2>
<ul>
<li><a href="https://rarediseases.org/" target="TheNewWin">National Organization for Rare Disorders (NORD)</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Clinical Trials</h2>
<ul>
<li><a href="https://clinicaltrials.gov/search?cond=%22Common variable immune deficiency%22" target="TheNewWin">ClinicalTrials.gov</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Catalog of Genes and Diseases from OMIM</h2>
<ul>
<li><a href="https://omim.org/entry/240500" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 2; CVID2</a></li>
<li><a href="https://omim.org/entry/607594" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 1; CVID1</a></li>
<li><a href="https://omim.org/entry/615559" target="TheNewWin">AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE III; ALPS3</a></li>
<li><a href="https://omim.org/entry/615577" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 10; CVID10</a></li>
<li><a href="https://omim.org/entry/613493" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 3; CVID3</a></li>
<li><a href="https://omim.org/entry/613494" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 4; CVID4</a></li>
<li><a href="https://omim.org/entry/613495" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 5; CVID5</a></li>
<li><a href="https://omim.org/entry/613496" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 6; CVID6</a></li>
<li><a href="https://omim.org/entry/616873" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 13; CVID13</a></li>
<li><a href="https://omim.org/entry/614699" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 7; CVID7</a></li>
<li><a href="https://omim.org/entry/614700" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 8, WITH AUTOIMMUNITY; CVID8</a></li>
<li><a href="https://omim.org/entry/615767" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 11; CVID11</a></li>
<li><a href="https://omim.org/entry/616576" target="TheNewWin">IMMUNODEFICIENCY, COMMON VARIABLE, 12, WITH AUTOIMMUNITY; CVID12</a></li>
</ul>
</div>
</section>
<section>
<div class="mp-content">
<h2>Scientific Articles on PubMed</h2>
<ul>
<li><a href="https://pubmed.ncbi.nlm.nih.gov/?term=%28%28common+variable+immune+deficiency%5BTI%5D%29+OR+%28CVID%5BTI%5D%29%29+AND+english%5Bla%5D+AND+human%5Bmh%5D+AND+%22last+3600+days%22%5Bdp%5D" target="TheNewWin">PubMed</a> <span class="desc-text"><img alt="From the National Institutes of Health" title="From the National Institutes of Health" src="https://medlineplus.gov/images/nih.png" class="imgdesc" width="25" height="16"></span></li>
</ul>
</div>
</section>
</div>
<div class="mp-exp exp-full" data-bookmark="references">
<h2>References</h2>
<section>
<div class="mp-content">
<ul>
<li>Ameratunga R, Woon ST, Gillis D, Koopmans W, Steele R. New diagnostic criteria
for common variable immune deficiency (CVID), which may assist with decisions to
treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol. 2013
Nov;174(2):203-11. doi: 10.1111/cei.12178. <a href="https://pubmed.ncbi.nlm.nih.gov/23859429" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3828823/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Cunningham-Rundles C. Autoimmune manifestations in common variable
immunodeficiency. J Clin Immunol. 2008 May;28 Suppl 1(Suppl 1):S42-5. doi:
10.1007/s10875-008-9182-7. Epub 2008 Mar 6. <a href="https://pubmed.ncbi.nlm.nih.gov/18322785" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694614/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM,
Phadwal K, Simon AK, Moutschen M, Etzioni A, Mory A, Srugo I, Melamed D, Hultenby
K, Liu C, Baronio M, Vitali M, Philippet P, Dideberg V, Aghamohammadi A, Rezaei
N, Enright V, Du L, Salzer U, Eibel H, Pfeifer D, Veelken H, Stauss H, Lougaris
V, Plebani A, Gertz EM, Schaffer AA, Hammarstrom L, Grimbacher B. Deleterious
mutations in LRBA are associated with a syndrome of immune deficiency and
autoimmunity. Am J Hum Genet. 2012 Jun 8;90(6):986-1001. doi:
10.1016/j.ajhg.2012.04.015. Epub 2012 May 17. <a href="https://pubmed.ncbi.nlm.nih.gov/22608502" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3370280/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Park JH, Resnick ES, Cunningham-Rundles C. Perspectives on common variable
immune deficiency. Ann N Y Acad Sci. 2011 Dec;1246:41-9. doi:
10.1111/j.1749-6632.2011.06338.x. <a href="https://pubmed.ncbi.nlm.nih.gov/22236429" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3428018/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Poodt AE, Driessen GJ, de Klein A, van Dongen JJ, van der Burg M, de Vries E.
TACI mutations and disease susceptibility in patients with common variable
immunodeficiency. Clin Exp Immunol. 2009 Apr;156(1):35-9. doi:
10.1111/j.1365-2249.2008.03863.x. Epub 2008 Dec 11. <a href="https://pubmed.ncbi.nlm.nih.gov/19210517" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673739/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Resnick ES, Cunningham-Rundles C. The many faces of the clinical picture of
common variable immune deficiency. Curr Opin Allergy Clin Immunol. 2012
Dec;12(6):595-601. doi: 10.1097/ACI.0b013e32835914b9. <a href="https://pubmed.ncbi.nlm.nih.gov/23026770" target="TheNewWin">Citation on PubMed</a></li>
<li>Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and
mortality in common variable immune deficiency over 4 decades. Blood. 2012 Feb
16;119(7):1650-7. doi: 10.1182/blood-2011-09-377945. Epub 2011 Dec 16. <a href="https://pubmed.ncbi.nlm.nih.gov/22180439" target="TheNewWin">Citation on PubMed</a> or <a href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3286343/" target="TheNewWin">Free article on PubMed Central</a></li>
<li>Sathkumara HD, De Silva NR, Handunnetti S, De Silva AD. Genetics of common
variable immunodeficiency: role of transmembrane activator and calcium modulator
and cyclophilin ligand interactor. Int J Immunogenet. 2015 Aug;42(4):239-53. doi:
10.1111/iji.12217. Epub 2015 Jun 19. <a href="https://pubmed.ncbi.nlm.nih.gov/26096648" target="TheNewWin">Citation on PubMed</a></li>
<li>Schaffer AA, Salzer U, Hammarstrom L, Grimbacher B. Deconstructing common
variable immunodeficiency by genetic analysis. Curr Opin Genet Dev. 2007
Jun;17(3):201-12. doi: 10.1016/j.gde.2007.04.002. Epub 2007 Apr 27. <a href="https://pubmed.ncbi.nlm.nih.gov/17467261" target="TheNewWin">Citation on PubMed</a></li>
</ul>
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