MCID: CMM004
MIFTS: 67

Common Variable Immunodeficiency malady

Genetic diseases, Rare diseases, Immune diseases, Blood diseases, Cancer diseases categories

Aliases & Classifications for Common Variable Immunodeficiency

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Sources:
30LifeMap Discovery®, 9Disease Ontology, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 22GTR, 60UMLS, 27ICD9CM, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Common Variable Immunodeficiency, Aliases & Descriptions:

Name: Common Variable Immunodeficiency 30 9 41 21 11 43 47 60
Cvid 9 41 21 47
Common Variable Immune Deficiency 41 20 21
Common Variable Agammaglobulinemia 9 22
Acquired Hypogammaglobulinemia 9 60
Common Variable Hypogamma-Globulinemia 41
Immunoglobulin Deficiency, Late-Onset 41
Common Variable Hypogammaglobulinemia 21
 
Idiopathic Immunoglobulin Deficiency 47
Combined Variable Immune Deficiency 41
Immunodeficiency, Common Variable 21
Hypogamma-Globulinemia, Acquired 41
Sporadic Hypogammaglobulinemia 9
Primary Hypogammaglobulinemia 47
Primary Antibody Deficiency 47
Acquired Agammaglobulinemia 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
common variable immunodeficiency:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Prevalence: 1-9/100000; Age of onset: All ages


External Ids:

Disease Ontology9 DOID:12177
ICD9CM27 279.06
MeSH33 D017074
NCIt38 C26725
Orphanet47 1572
SNOMED-CT55 23238000, 191010004
MESH via Orphanet34 D017074
ICD10 via Orphanet26 D83.0, D83.1, D83.2 D83.8, D83.9, more
UMLS via Orphanet61 C0009447

Summaries for Common Variable Immunodeficiency

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NIH Rare Diseases:41 Common variable immunodeficiency (cvid) is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that cause infection. the main feature that separates cvid from other immunodeficiencies is low levels of two specific antibodies, immunoglobulin a (iga) and immunoglobulin g (igg). people with cvid get more frequent infections, particularly in the sinuses, lungs, and digestive tract. symptoms most commonly begin in early adulthood, but have been found in children as young as age two. while in most cases the cause of cvid is unknown, the condition has been associated with mutations in at least 10 genes. about 10% of affected people have mutations in the tnfrsf13b gene. the main treatment for cvid is ig replacement therapy, which stops the cycle of recurrent infections. last updated: 9/15/2014

MalaCards based summary: Common Variable Immunodeficiency, also known as cvid, is related to interstitial lung disease and systemic lupus erythematosus, and has symptoms including sinusitis, otitis media and thrombocytopenia. An important gene associated with Common Variable Immunodeficiency is LRBA (LPS-responsive vesicle trafficking, beach and anchor containing), and among its related pathways are Syndecan-4-mediated signaling events and Syndecan-2-mediated signaling events. The compounds baff and sulfolipid i have been mentioned in the context of this disorder. Affiliated tissues include b cells, lung and t cells, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Disease Ontology:9 A hypogammaglobulinemia that is results in insufficient production of antibodies needed to respond to exposure of pathogens and is characterized by low ig levels with phenotypically normal b cells that can proliferate but do not develop into ig-producing cells. patients with common variable immunodeficiency have marked reduction in serum levels of both immunoglobulin g (igg) and immunoglobulin a (iga); about half of these patients also have reduced immunoglobulin m (igm).

Genetics Home Reference:21 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 lungs, sinuses, and ears. 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 gastrointestinal tract, which can cause diarrhea and weight loss. Abnormal accumulation of immune cells causes enlarged lymph nodes (lymphadenopathy) or an enlarged spleen (splenomegaly) in some people with CVID. Immune cells can accumulate in other organs, forming small lumps called granulomas.

Wikipedia:63 Common variable immunodeficiency (CVID) is the most commonly diagnosed primary immunodeficiency. It is... more...

Related Diseases for Common Variable Immunodeficiency

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Diseases related to Common Variable Immunodeficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 241)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease31.5CD79A
2systemic lupus erythematosus31.4CD27, TNFSF13B
3lupus erythematosus31.4CD79A, CD40LG
4autoimmune hemolytic anemia31.3CD40LG, CD79A
5agammaglobulinemia31.2BTK, CD79A, CD40LG, SH2D1A
6hodgkin lymphoma31.0AICDA, TNFSF13B, SH2D1A, MS4A1
7hepatitis c30.9TNFSF13B, CD40LG, CD81
8x-linked hyper igm syndrome30.8AICDA, SH2D1A, CD40LG
9nephritis30.8CD79A, CD40LG, TNFSF13B
10thrombocytopenia30.8AICDA, CD19, CD40LG, CD79A
11toxoplasmosis30.8CD40LG, CD79A
12selective iga deficiency disease30.8BTK, CD40LG, CD79A
13asthma30.7TNFSF13B, BTK, CD79A, AICDA
14vasculitis30.7CD40LG, CD79A, SH2D1A, TNFSF13B
15rheumatoid arthritis30.5BTK, CD40LG, CD79A, CD19, CD27, TNFSF13B
16leukemia30.2VPREB1, CD79A, AICDA, BTK, SH2D1A, CD40LG
17burkitt lymphoma30.1AICDA, TNFSF13B, MS4A1, CD40LG, CD27, CR2
18b-cell lymphomas29.4CD81, CD19, NFKB2, BTK, CR2, MS4A1
19pneumonia10.6
20hepatitis10.6
21purpura10.6
22q fever10.5CD79A
23syphilis10.5CD79A
24primary agammaglobulinemia10.5TNFRSF13B, TNFRSF13C
25immunoglobulin alpha deficiency10.5CD79A, TNFRSF13B
26congenital toxoplasmosis10.5CD40LG, CD79A
27dysgammaglobulinemia10.5CD79A, SH2D1A
28immunoglobulin g deficiency10.5CD79A, CD40LG
29cryptosporidiosis10.5CD79A
30hemolytic anemia10.5
31bronchiectasis10.5
32cd40 deficiency10.5CD40LG, AICDA
33immunodeficiency, centromere instability and facial anomalies syndrome10.5CD79A, CD40LG
34rubella10.5CD79A, CD40LG
35immunodeficiency, common variable, 710.5
36arthritis10.5
37amyloidosis10.5
38colitis10.5
39meningitis10.5
40retinitis10.5
41hemophagocytic lymphohistiocytosis10.4SH2D1A
42cr2-related common variable immune deficiency10.4
43cd19-related common variable immune deficiency10.4
44icos-related common variable immune deficiency10.4
45tnfrsf13b-related common variable immune deficiency10.4
46tnfrsf13c-related common variable immune deficiency10.4
47macroglobulinemia10.4CD19, CD79A
48sjogren's syndrome10.4CD79A, TNFSF13B, CD40LG
49tetanus10.4CD79A, CD40LG, CD27
50human immunodeficiency virus infectious disease10.4CD27, CD79A

Graphical network of the top 20 diseases related to Common Variable Immunodeficiency:



Diseases related to common variable immunodeficiency

Symptoms for Common Variable Immunodeficiency

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Symptoms:

 47 (show all 27)
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • repeat respiratory infections
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • agammaglobulinemia/hypogammaglobulinemia/b-cell deficiency
  • leukopenia/hypoleukocytosis
  • lymphopenia
  • thrombocytopenia/thrombopenia
  • autosomal dominant inheritance
  • purpura/petichiae
  • malabsorption/chronic diarrhea/steatorrhea
  • structural anomalies of the liver and the biliary tract
  • abnormal hepatic enzymes/transaminases
  • splenomegaly
  • bronchial dilation/dilatation/bronchiectasia
  • lymphadenopathy/polyadenopathies
  • hemolytic anemia
  • autosomal recessive inheritance
  • emphysema
  • interstitial/restrictive pneumopathy/restrictive respiratory syndrome
  • vascularitis/vasculitides/arteritis
  • articular/joint pain/arthralgia
  • estomach/gastric neoplasm/tumor/carcinoma/cancer
  • gastrointestinal stromal tumor
  • lymphoma
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • biological inflammatory syndrome/increased erythrocyte sedimentation rate/crp

HPO human phenotypes related to Common Variable Immunodeficiency:

(show all 21)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 otitis media hallmark (90%) HP:0000388
3 thrombocytopenia hallmark (90%) HP:0001873
4 leukopenia hallmark (90%) HP:0001882
5 lymphopenia hallmark (90%) HP:0001888
6 recurrent respiratory infections hallmark (90%) HP:0002205
7 hypogammaglobulinemia hallmark (90%) HP:0004313
8 splenomegaly typical (50%) HP:0001744
9 hemolytic anemia typical (50%) HP:0001878
10 subcutaneous hemorrhage typical (50%) HP:0001933
11 malabsorption typical (50%) HP:0002024
12 abnormality of the bronchi typical (50%) HP:0002109
13 lymphadenopathy typical (50%) HP:0002716
14 elevated hepatic transaminases typical (50%) HP:0002910
15 restrictive lung disease occasional (7.5%) HP:0002091
16 emphysema occasional (7.5%) HP:0002097
17 vasculitis occasional (7.5%) HP:0002633
18 lymphoma occasional (7.5%) HP:0002665
19 arthralgia occasional (7.5%) HP:0002829
20 neoplasm of the stomach occasional (7.5%) HP:0006753
21 gastrointestinal stroma tumor occasional (7.5%) HP:0100723

Drugs & Therapeutics for Common Variable Immunodeficiency

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Drug clinical trials:

Search ClinicalTrials for Common Variable Immunodeficiency

Search NIH Clinical Center for Common Variable Immunodeficiency

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Common Variable Immunodeficiency cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Common Variable Immunodeficiency:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Common Variable Immunodeficiency:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Common Variable Immunodeficiency

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Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Immune Deficiency20 TNFRSF13C
2 Common Variable Agammaglobulinemia22

Anatomical Context for Common Variable Immunodeficiency

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MalaCards organs/tissues related to Common Variable Immunodeficiency:

31
B cells, Lung, T cells, Lymph node, Spleen, Liver, Bone, Monocytes, Bone marrow, Testes, Whole blood, Skin, Brain, Smooth muscle, Small intestine, Neutrophil

Animal Models for Common Variable Immunodeficiency or affiliated genes

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MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020069.7CD19, BTK, ICOS, TNFRSF13B, AICDA
2MP:00053679.4TNFRSF13B, PRKCD, CR2, NFKB2, CD19, CD79A
3MP:00053768.7TNFRSF13B, TNFRSF13C, SH2D1A, PRKCD, ICOS, CR2
4MP:00053848.7AICDA, PRKCD, MSH5, BTK, NFKB2, CD27
5MP:00053977.8AICDA, CD40LG, CD79A, CD19, CD27, NFKB2
6MP:00053877.8AICDA, CD81, CD40LG, CD79A, CD19, CD27

Publications for Common Variable Immunodeficiency

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Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 653)
idTitleAuthorsYear
1
Key stages of bone marrow B-cell maturation are defective in patients with common variable immunodeficiency disorders. (25725990)
2015
2
The role of chronic norovirus infection in the enteropathy associated with common variable immunodeficiency. (25623655)
2015
3
Hypogammaglobulinemia with normal antibody response progressing to common variable immunodeficiency. (25843162)
2015
4
Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. (24247002)
2014
5
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
6
AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. (23731676)
2013
7
Quantification of IgM and IgA anti-pneumococcal capsular polysaccharides by a new ELISA assay: a valuable diagnostic and prognostic tool for common variable immunodeficiency. (23274802)
2013
8
Germline mutations in NFKB2 implicate the noncanonical NF-I_B pathway in the pathogenesis of common variable immunodeficiency. (24140114)
2013
9
The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. (22526591)
2012
10
Common variable immunodeficiency presenting with persistent parvovirus B19 infection. (23129076)
2012
11
Health related quality of life in common variable immunodeficiency. (22477006)
2012
12
Genome-wide association identifies diverse causes of common variable immunodeficiency. (21497890)
2011
13
Cell-mediated immune responses to inactivated trivalent influenza-vaccination are decreased in patients with common variable immunodeficiency. (21889412)
2011
14
Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. (20629103)
2011
15
Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency. (21905497)
2011
16
Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? (22230404)
2011
17
Analysis of bulk and virus-specific CD8+ T cells reveals advanced differentiation of CD8+ T cells in patients with common variable immunodeficiency. (21873117)
2011
18
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. (20945602)
2010
19
A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders. (20299624)
2010
20
Detection of pulmonary complications in common variable immunodeficiency. (19912551)
2010
21
Toll-like receptor-9 gene polymorphism in common variable immunodeficiency. (20635795)
2010
22
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells marked by CD24 expression. (21041728)
2010
23
Common variable immunodeficiency: a heterogeneous group needs further subclassification. (20477686)
2009
24
Common variable immunodeficiency with regulatory T-cell deficiency treated with rapamycin. (19230472)
2009
25
Burkitt lymphoma in the setting of common variable immunodeficiency. (19252909)
2009
26
The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency. (19426217)
2009
27
T-cell homeostasis: the dark(ened) side of common variable immunodeficiency. (18606891)
2008
28
Response to polysaccharide vaccination amongst pediatric patients with common variable immunodeficiency correlates with clinical disease. (19052353)
2008
29
Genetic defects in common variable immunodeficiency. (17627754)
2007
30
Mortality and morbidity in common variable immunodeficiency. (17166933)
2007
31
Deconstructing common variable immunodeficiency by genetic analysis. (17467261)
2007
32
Effect of regular intravenous immunoglobulin therapy on prevention of pneumonia in patients with common variable immunodeficiency. (16604243)
2006
33
Aggressive natural killer cell leukemia in a patient with common variable immunodeficiency syndrome. (16785152)
2006
34
Elevated levels of activated CD4 T cells in common variable immunodeficiency: association with clinical findings. (16854344)
2006
35
Intestinal strongyloidiasis and common variable immunodeficiency syndrome. (15876606)
2005
36
Abnormal interleukin-7 function in common variable immunodeficiency. (15598813)
2005
37
The loss of IgM memory B cells correlates with clinical disease in common variable immunodeficiency. (15696104)
2005
38
Normal ICOS, ICOSL and AID alleles in Danish patients with common variable immunodeficiency. (15963052)
2005
39
Chlamydia pneumoniae arthritis in a patient with common variable immunodeficiency. (15875533)
2005
40
Autoimmune thrombocytopenic purpura and common variable immunodeficiency: analysis of 21 cases and review of the literature. (15232313)
2004
41
Common variable immunodeficiency syndrome with right aortic arch: a case report. (15005811)
2004
42
Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity. (12574940)
2003
43
Enhanced apoptosis of T cells in common variable immunodeficiency (CVID): role of defective CD28 co-stimulation. (10844530)
2000
44
Retinal vasculitis occurring with common variable immunodeficiency syndrome. (10682991)
2000
45
Adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency in common variable immunodeficiency. (9605997)
1998
46
IL-10 production in common variable immunodeficiency. (9557163)
1998
47
Common variable immunodeficiency with CD4+ T lymphocytopenia and overproduction of soluble IL-2 receptor associated with Turner's syndrome and dorsal kyphoscoliosis. (9462277)
1997
48
A case of common variable immunodeficiency associated with cyclic thrombocytopenia. (7871984)
1994
49
An unusual T-cell surface phenotype in vivo correlates with the failure to proliferate and produce IL-2 in vitro in a patient with common variable immunodeficiency. (1280540)
1992
50
Isolated adrenocorticotropic hormone deficiency associated with common variable immunodeficiency. (1645668)
1991

Variations for Common Variable Immunodeficiency

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Clinvar genetic disease variations for Common Variable Immunodeficiency:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CD81NM_004356.3(CD81): c.561+1G> Asingle nucleotide variantPathogenicGRCh38Chr 11, 2395971: 2395971
2MS4A1MS4A1, IVS5DS, 11-BP INS AND 2-BP DELindelPathogenic
3CD19CD19, 1-BP INS, 972AinsertionPathogenic
4CD19CD19, 2-BP DEL, 1384GAdeletionPathogenic
5CR2NM_001006658.2(CR2): c.2297G> A (p.Trp766Ter)single nucleotide variantPathogenicrs398122863GRCh37Chr 1, 207647642: 207647642
6CR2NM_001006658.2(CR2): c.1225+1G> Csingle nucleotide variantPathogenicrs398122864GRCh37Chr 1, 207643448: 207643448
7LRBANM_006726.4(LRBA): c.7970T> G (p.Ile2657Ser)single nucleotide variantPathogenicrs199469663GRCh37Chr 4, 151223857: 151223857
8LRBANM_006726.4(LRBA): c.5047C> T (p.Arg1683Ter)single nucleotide variantPathogenicrs199469662GRCh37Chr 4, 151749456: 151749456
9LRBANM_006726.4(LRBA): c.175G> T (p.Glu59Ter)single nucleotide variantPathogenicrs199469664GRCh37Chr 4, 151935620: 151935620
10LRBALRBA, 111.1-KB DELdeletionPathogenic
11TNFRSF13CTNFRSF13C, 24-BP DEL, NT89deletionPathogenic
12TNFRSF13BNM_012452.2(TNFRSF13B): c.605G> A (p.Arg202His)single nucleotide variantPathogenicrs104894649GRCh37Chr 17, 16843666: 16843666
13TNFRSF13BNM_012452.2(TNFRSF13B): c.581_582delCCinsAA (p.Ser194Ter)indelPathogenicGRCh37Chr 17, 16843689: 16843690
14TNFRSF13BNM_012452.2(TNFRSF13B): c.431C> A (p.Ser144Ter)single nucleotide variantPathogenicrs104894650GRCh37Chr 17, 16852066: 16852066
15ICOSICOS, EX2-3 DELdeletionPathogenic
16NFKB2NM_002502.5(NFKB2): c.2557C> T (p.Arg853Ter)single nucleotide variantPathogenicrs397514332GRCh37Chr 10, 104161895: 104161895
17NFKB2NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs)deletionPathogenicrs397514331GRCh37Chr 10, 104161902: 104161902
18PRKCDNM_006254.3(PRKCD): c.1352+1G> Asingle nucleotide variantPathogenicrs398122958GRCh37Chr 3, 53220712: 53220712
19NFKB2NFKB2, 1-BP DEL, 2564AdeletionPathogenic

Expression for genes affiliated with Common Variable Immunodeficiency

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Search GEO for disease gene expression data for Common Variable Immunodeficiency.

Pathways for genes affiliated with Common Variable Immunodeficiency

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Pathways related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.2PRKCD, TNFRSF13B
210.2TNFRSF13B, PRKCD
310.1MS4A1, CR2, CD19
410.1CR2, NFKB2, CD19
510.0CD19, CD40LG, CD81
6
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways58
Immune response IL 1 signaling pathway58
10.0NFKB2, PRKCD, BTK
7
Show member pathways
Development A1 receptor signaling58
G protein signaling G Protein alpha q signaling cascades58
10.0NFKB2, BTK, PRKCD
8
Show member pathways
Apoptosis and survival TNFR1 signaling pathway58
TWEAK Signaling Pathway36
Apoptosis Modulation by HSP7036
HIV-1 Nef- Negative effector of Fas and TNF-alpha36
10.0NFKB2, BTK, TNFSF12
9
Show member pathways
10.0CD79A, BTK, CD19
10
Show member pathways
9.9NFKB2, TNFSF13B, PRKCD, TNFRSF13C
11
Show member pathways
Immune response T cell receptor signaling pathway58
Immune response CD28 signaling58
Immune response ICOS pathway in T helper cell58
9.8CD79A, NFKB2, BTK, ICOS
12
Show member pathways
9.8CD19, BTK, PRKCD, CD79A
13
Show member pathways
RANKL/RANK Signaling Pathway36
Apoptosis and survival APRIL and BAFF signaling58
9.8NFKB2, TNFRSF13B, TNFRSF13C, TNFSF13B, CR2
14
Show member pathways
9.7BTK, TNFSF13B, TNFRSF13C, TNFRSF13B, TNFSF12
15
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway58
9.7CD40LG, TNFRSF13B, TNFSF13B, TNFSF12, NFKB2
169.6CD40LG, NFKB2, BTK, TNFSF13B, TNFRSF13C
17
Show member pathways
9.6TNFSF12, BTK, PRKCD, TNFSF13B, TNFRSF13C, TNFRSF13B
18
Show member pathways
9.6TNFRSF13B, TNFRSF13C, TNFSF13B, TNFSF12, PRKCD, BTK
19
Show member pathways
9.6TNFSF12, TNFRSF13B, TNFSF13B, PRKCD, BTK, TNFRSF13C
209.6CR2, CD79A, CD81, BTK, CD19, PRKCD
21
Show member pathways
9.6PRKCD, CD19, CR2, BTK, CD81, CD79A
22
Show member pathways
9.5TNFRSF13B, AICDA, ICOS, CD40LG, TNFSF13B, TNFRSF13C
23
Show member pathways
9.5ICOS, CD79A, CD81, BTK, CD19, CD40LG
24
Show member pathways
Immune response BCR pathway58
Fc-epsilon receptor I signaling in mast cells36
9.4CD79A, CD19, PRKCD, CR2, CD81, NFKB2
259.4BTK, SH2D1A, CD79A, TNFSF13B, AICDA, CD19
26
Show member pathways
BCR signaling pathway36
TCR Signaling Pathway36
9.2ICOS, CD81, CD40LG, CD79A, CD19, BTK
279.2CD79A, CD40LG, CD19, BTK, ICOS, TNFRSF13C
28
Show member pathways
9.2TNFRSF13B, PRKCD, TNFRSF13C, TNFSF13B, TNFSF12, BTK
29
Show member pathways
9.2TNFRSF13B, TNFRSF13C, TNFSF13B, CD40LG, CD27, BTK

Compounds for genes affiliated with Common Variable Immunodeficiency

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Sources:
28IUPHAR, 43Novoseek, 12DrugBank, 49PharmGKB, 24HMDB
See all sources

Compounds related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

(show all 28)
idCompoundScoreTop Affiliating Genes
1baff2810.6TNFRSF13B, TNFRSF13C
2sulfolipid i4310.5CD79A, CD40LG
3sandoglobulin4310.4CD79A, CD40LG
4gamma globulin4310.4CD79A, CD40LG
5vancomycin43 1211.4CD40LG, CD79A
6pneumococcal4310.4CD40LG, CD79A
7tuberculin4310.4CD79A, CD40LG
8praziquantel43 1211.3CD40LG, CD79A
9hemocyanin4310.3CD40LG, CD79A
10okt34310.3CD40LG, CD79A, CR2
11gliadin4310.3CD40LG, CD79A
12bcma4310.3TNFRSF13C, TNFRSF13B, CD27, TNFSF13B
13pmma4310.2CD40LG, CD79A
14silicone4310.2CD79A, CD40LG
15rituximab43 49 1212.1TNFSF13B, CD79A, MS4A1, CD40LG
16cytidine43 24 1212.1CD40LG, CD79A, ICOS, AICDA
17fluconazole43 1211.1SH2D1A, CD79A
18paraffin4310.1MS4A1, CR2, CD79A, CD40LG
19ionomycin4310.1PRKCD, CD40LG, BTK
20blys4310.1TNFRSF13B, CD40LG, CD79A, TNFSF13B, TNFRSF13C
21ivig4310.1CD79A, BTK, CD40LG, AICDA
22phosphatidylinositol4310.0PRKCD, BTK, CD81, CD19, CR2
23mannan4310.0CD79A, CD40LG
24estrogen439.8CR2, PRKCD, AICDA, CD40LG, CD79A
25cysteine439.8CD81, PRKCD, BTK, CD27, CD79A, CD40LG
26phosphatidylserine43 28 1211.7CD40LG, CD79A, PRKCD
27tyrosine439.6CD81, BTK, PRKCD, SH2D1A, CD19, CR2
28calcium43 49 24 1212.2CD81, TNFRSF13B, TNFRSF13C, CD19, CD27, BTK

GO Terms for genes affiliated with Common Variable Immunodeficiency

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Cellular components related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1external side of plasma membraneGO:00098979.1TNFRSF13B, CD40LG, CD79A, CD19, CD27, CR2
2integral component of plasma membraneGO:00058879.0TNFRSF13B, TNFSF12, MS4A1, ICOS, CD27, CD19
3plasma membraneGO:00058868.9CD40LG, CD79A, CD19, BTK, CR2, ICOS

Biological processes related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

(show all 16)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:003129610.4TNFRSF13C, TNFSF13B
2positive regulation of germinal center formationGO:000263610.4TNFSF13B, TNFRSF13C
3B cell homeostasisGO:000178210.3TNFSF13B, TNFRSF13C, TNFRSF13B
4immunoglobulin mediated immune responseGO:001606410.3CD27, PRKCD
5immunoglobulin secretionGO:004830510.3TNFSF13B, CD40LG
6T cell costimulationGO:003129510.3TNFRSF13C, TNFSF13B, ICOS
7B cell receptor signaling pathwayGO:005085310.2BTK, CD19, CD79A
8positive regulation of B cell differentiationGO:004557910.2CD27, BTK
9B cell activationGO:004211310.1CD79A, BTK
10regulation of immune responseGO:005077610.1CD40LG, CD19, CD81
11B cell differentiationGO:003018310.1CD79A, CR2, AICDA, CD40LG
12B cell proliferationGO:004210010.0CD40LG, PRKCD, MS4A1, CR2, CD79A
13isotype switchingGO:004519010.0CD40LG, AICDA
14immune responseGO:00069559.9CR2, ICOS, TNFSF12, TNFSF13B
15innate immune responseGO:00450879.9CD19, NFKB2, BTK, CR2, PRKCD
16cell surface receptor signaling pathwayGO:00071669.8CD27, CD19, TNFRSF13B

Molecular functions related to Common Variable Immunodeficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1MHC class II protein complex bindingGO:002302610.2CD81, MS4A1
2tumor necrosis factor receptor bindingGO:000516410.0CD40LG, TNFSF12, TNFSF13B
3cytokine activityGO:00051259.9CD40LG, TNFSF12, TNFSF13B
4transmembrane signaling receptor activityGO:00048889.9CR2, CD27, CD79A
5protein bindingGO:00055158.4AICDA, TNFRSF13B, TNFSF13B, TNFSF12, SH2D1A, PRKCD

Products for genes affiliated with Common Variable Immunodeficiency

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Sources for Common Variable Immunodeficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet