CVID
MCID: CMM014
MIFTS: 47

Common Variable Immune Deficiency (CVID) malady

Genetic diseases (common), Immune diseases categories

Summaries for Common Variable Immune Deficiency

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22Genetics Home Reference, 66Wikipedia, 20GeneReviews, 34MalaCards
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Genetics Home Reference:22 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.

MalaCards: Common Variable Immune Deficiency, also known as common variable immunodeficiency, is related to lupus erythematosus and uveitis. An important gene associated with Common Variable Immune Deficiency is TNFRSF13C (tumor necrosis factor receptor superfamily, member 13C), and among its related pathways are Syndecan-4-mediated signaling events and Syndecan-2-mediated signaling events. The compounds baff and okt3 have been mentioned in the context of this disorder. Affiliated tissues include b cells, liver and lung, and related mouse phenotypes are tumorigenesis and renal/urinary system.

Wikipedia:66 Common variable immunodeficiency (CVID) is one in a group of approximately 150 primary... more...

GeneReviews summary for cvid

Aliases & Classifications for Common Variable Immune Deficiency

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20GeneReviews, 21GeneTests, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Immune diseases


Aliases & Descriptions:

common variable immune deficiency 20 21 22
common variable immunodeficiency 22 11 46 63
cvid 20 22
common variable hypogammaglobulinemia 22
combined variable immune deficiency 20
immunodeficiency, common variable 22


Related Diseases for Common Variable Immune Deficiency

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18GeneCards, 19GeneDecks
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Diseases related to Common Variable Immune Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
1lupus erythematosus30.7TLR9
2uveitis30.5CTLA4, TNF
3systemic lupus erythematosus30.4TLR9, TNFRSF13C, TNF, ICOS, CR2, CTLA4
4b-cell lymphomas30.3TNFRSF13C, CR2, NFKB2, CD19
5non-hodgkin lymphoma30.1TNFRSF13B, TNFRSF13C, CR2, CD19
6allergic asthma30.1TLR9, CTLA4, CR2
7rheumatoid arthritis30.1CTLA4, TLR9, TNFRSF13C, TNF, CD19
8ulcerative colitis30.1TLR9, TNF, CTLA4
9vasculitis30.1TNF, CTLA4
10multiple sclerosis30.1TNF, CTLA4, TNFRSF13B, TNFRSF13C
11common variable immunodeficiency10.8
12pneumonia10.6
13hemolytic anemia10.5
14retinitis10.5
15bronchiectasis10.4
16autoimmune hemolytic anemia10.4
17agammaglobulinemia10.4
18hepatitis c10.3
19hepatitis10.3
20cr2-related common variable immune deficiency10.3
21cd19-related common variable immune deficiency10.3
22icos-related common variable immune deficiency10.3
23tnfrsf13b-related common variable immune deficiency10.3
24tnfrsf13c-related common variable immune deficiency10.3
25evans' syndrome10.3
26autoimmune lymphoproliferative syndrome10.3
27strongyloidiasis10.3
28celiac disease10.3
29asthma10.3
30diarrhea10.3
31herpes simplex10.3
32influenza10.3
33t cell deficiency10.3
34nodular regenerative hyperplasia10.3
35immunodeficiency, common variable, 110.3
36crohn's disease10.2
37myelitis10.2
38autoimmune thrombocytopenic purpura10.2
39bronchiolitis10.2
40progressive multifocal leukoencephalopathy10.2
41duodenitis10.2
42epidermodysplasia verruciformis10.2
43aseptic meningitis10.2
44vitiligo10.2
45diffuse large b-cell lymphoma10.2
46hodgkin's lymphoma10.2
47hypertension10.2
48inflammatory bowel disease10.2
49leukemia10.2
50neutropenia10.2

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



Diseases related to common variable immune deficiency

Symptoms for Common Variable Immune Deficiency

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Drugs & Therapeutics for Common Variable Immune Deficiency

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Common Variable Immune Deficiency

Drug clinical trials:

Search ClinicalTrials for Common Variable Immune Deficiency

Search NIH Clinical Center for Common Variable Immune Deficiency

Search CenterWatch for Common Variable Immune Deficiency

Genetic Tests for Common Variable Immune Deficiency

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21GeneTests
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Genetic tests related to Common Variable Immune Deficiency:

id Genetic test Affiliating Genes
1 Common Variable Immune Deficiency21 TNFRSF13C

Anatomical Context for Common Variable Immune Deficiency

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34MalaCards
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MalaCards organs/tissues related to Common Variable Immune Deficiency:

34
B cells, Liver, Lung

Animal Models for Common Variable Immune Deficiency or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Common Variable Immune Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.9CD19, ICOS, TNF, TNFRSF13B
2MP:00053677.6TLR9, TNFRSF13B, PRKCD, CR2, NFKB2, CD19
3MP:00053707.3TNFRSF13B, TNF, PRKCD, NFKB2, CD19, CTLA4
4MP:00053817.1TLR9, TNF, ICOS, NFKB2, CD19, CTLA4
5MP:00107686.2TLR9, TNFRSF13B, TNF, PRKCD, CR2, NCF4
6MP:00053766.0TNF, TNFRSF13C, TNFRSF13B, TLR9, PRKCD, ICOS
7MP:00053975.7CTLA4, TLR9, TNFRSF13B, TNFRSF13C, TNF, PRKCD
8MP:00053875.6TNF, TNFRSF13C, TNFRSF13B, TLR9, PRKCD, ICOS

Publications for Common Variable Immune Deficiency

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53PubMed
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Articles related to Common Variable Immune Deficiency:

(show top 50)    (show all 53)
idTitleAuthorsYear
1
High-grade fever and pancytopenia in an adult patient with common variable immune deficiency. (24433602)
2014
2
Common variable immune deficiency in children--clinical characteristics varies depending on defect in peripheral B cell maturation. (23389235)
2013
3
More common than you think: common variable immune deficiency. (24381771)
2013
4
Variability of memory B cell markers in a cohort of common variable immune deficiency patients over 6 months. (23360162)
2013
5
Hypogammaglobulinemia factitia- Munchausen syndrome masquerading as common variable immune deficiency. (24341706)
2013
6
Interferon signature in the blood in inflammatory common variable immune deficiency. (24069364)
2013
7
New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. (23859429)
2013
8
Orbital follicular hyperplasia in common variable immune deficiency syndrome. (23446300)
2013
9
Malignancy in common variable immune deficiency: report of two rare cases of gastrointestinal malignancy and a review of the literature. (22746346)
2012
10
Morbidity and mortality in common variable immune deficiency over 4 decades. (22180439)
2012
11
The many faces of the clinical picture of common variable immune deficiency. (23026770)
2012
12
Common variable immune deficiency and treatment with intravenous immunoglobulin during pregnancy. (22626605)
2012
13
Perspectives on common variable immune deficiency. (22236429)
2011
14
"A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011? (21970952)
2011
15
Undetected common variable immune deficiency in a young adult of Pakistani descent. (22830176)
2011
16
How I treat common variable immune deficiency. (20332369)
2010
17
The association of common variable immune deficiency with idiopathic inflammatory myopathies. (20851031)
2010
18
Role of B cells in common variable immune deficiency. (20477641)
2009
19
Limbic encephalitis associated with anti-GAD antibody and common variable immune deficiency. (19191828)
2009
20
Common variable immune deficiency (CVID) presenting as an autoimmune disease: role of memory B cells. (18295735)
2008
21
Low level IGF-1 and common variable immune deficiency: an unusual combination. (18931397)
2008
22
CTLA-4 gene exon-1 +49 A/G polymorphism: lack of association with autoimmune disease in patients with common variable immune deficiency. (17192819)
2007
23
Large cell lymphoma presenting as a flare of colitis in a patient with common variable immune deficiency. (17268834)
2007
24
Recurrent multi-organism keratoconjunctivitis manifesting as a first presentation of common variable immune deficiency (CVID). (17972226)
2007
25
Common variable immune deficiency: reviews, continued puzzles, and a new registry. (17917013)
2007
26
TLR9 activation is defective in common variable immune deficiency. (16424230)
2006
27
Inflammatory and autoimmune complications of common variable immune deficiency. (16431351)
2006
28
Common variable immune deficiency and autoimmunity. (16920573)
2006
29
Association of secondary amyloidosis with common variable immune deficiency and tuberculosis. (16385663)
2005
30
Intravenous immunoglobulin replacement prevents severe and lower respiratory tract infections, but not upper respiratory tract and non-respiratory infections in common variable immune deficiency. (15679727)
2005
31
The HRCT appearances of granulomatous pulmonary disease in common variable immune deficiency. (15899336)
2005
32
Deficient IL-12 and dendritic cell function in common variable immune deficiency. (15885637)
2005
33
Recurrent meningitis in association with common variable immune deficiency. (15591667)
2004
34
Lamotrigine-induced common variable immune deficiency. (15007150)
2004
35
Common variable immune deficiency: respiratory manifestations, pulmonary function and high-resolution CT scan findings. (12324637)
2002
36
The simultaneous presentation of sarcoidosis and common variable immune deficiency. (11186425)
2000
37
Long-term interferon alpha maintenance therapy for chronic hepatitis C infection in a patient with common variable immune deficiency. (10478889)
1999
38
Effect of IVIG on the hair regrowth in a common variable immune deficiency patient with alopecia universalis. (10403010)
1999
39
Long-term maintenance of immunity in patients with common variable immune deficiency by plasma transfusion. (9646858)
1998
40
In vitro chromosomal radiosensitivity in common variable immune deficiency. (9473380)
1998
41
Nodular lymphoid hyperplasia of the small bowel complicated by jejunal lymphoma in a patient with common variable immune deficiency syndrome. (7976886)
1994
42
Common Variable Immune Deficiency Overview (20301476)
1993
43
Chromosomal radiosensitivity in common variable immune deficiency. (7694117)
1993
44
Genetic and immunologic analysis of a family containing five patients with common-variable immune deficiency or selective IgA deficiency. (1363103)
1992
45
Diabetes mellitus in ataxia-telangiectasia, Fanconi anemia, xeroderma pigmentosum, common variable immune deficiency, and severe combined immune deficiency families. (3943665)
1986
46
Cancer and autoimmune disease in families with common variable immune deficiency. (3957001)
1986
47
Common variable immune deficiency syndrome associated with lupus anticoagulant. (3919983)
1985
48
Partial in vivo response to corticosteroid treatment in common variable immune deficiency. (2859250)
1985
49
Evidence of persistent IgA/IgG circulating immune complexes associated with activation of the complement system in serum of a patient with common variable immune deficiency: anaphylactic reactions to intravenous gammaglobulin. (6203331)
1984
50
Phagocyte dysfunction in common variable immune deficiency. (895009)
1977

Variations for Common Variable Immune Deficiency

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Expression for genes affiliated with Common Variable Immune Deficiency

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Common Variable Immune Deficiency

Search GEO for disease gene expression data for Common Variable Immune Deficiency.

Pathways for genes affiliated with Common Variable Immune Deficiency

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Sources:
51PathCards, 39NCBI BioSystems Database, 54QIAGEN, 31KEGG, 55R&D Systems, 61Thomson Reuters, 52PharmGKB, 56Reactome, 5Cell Signaling Technology, 58SinoBiological
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Pathways related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 43)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6PRKCD, TNFRSF13B
29.6TNFRSF13B, PRKCD
39.5PRKCD, TLR9
49.4TNF, TLR9
59.4TNF, TLR9
6
Show member pathways
IL27-mediated signaling events39
9.4TLR9, TNF
7
Show member pathways
Calcium signaling in the CD4+ TCR pathway39
9.3TNF, CTLA4
89.3PRKCD, TNF
99.3PRKCD, TNF
10
Show member pathways
9.3PRKCD, TNF
119.3CD19, CR2, PRKCD
12
Show member pathways
9.2NFKB2, NCF4
139.2TNF, CR2, CD19
149.2TNFRSF13B, TNFRSF13C, ICOS, CD19
15
Show member pathways
Development VEGF signaling via VEGFR2 generic cascades61
9.1PRKCD, NFKB2
16
Show member pathways
9.1CTLA4, ICOS, PRKCD
179.0NFKB2, TNF
189.0TNF, NFKB2
199.0NFKB2, TNF
209.0CR2, NFKB2, CD19
21
Show member pathways
9.0TNF, PRKCD, CR2
22
Show member pathways
8.9ICOS, NCF4, CD19, CTLA4
238.7NFKB2, TNF, TNFRSF13C
248.7NFKB2, TNF, TNFRSF13C
25
Show member pathways
8.7TNF, TNFRSF13C, TNFRSF13B, TLR9
26
Show member pathways
8.7PRKCD, TNF, TNFRSF13C, TNFRSF13B
27
Show member pathways
8.7PRKCD, TNF, TNFRSF13C, TNFRSF13B
28
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway61
8.7NFKB2, TNF, TNFRSF13B
29
Show member pathways
RANKL/RANK Signaling Pathway39
Apoptosis and survival APRIL and BAFF signaling61
8.7NFKB2, CR2, TNFRSF13C, TNFRSF13B
308.6NFKB2, NCF4, TNF
318.6TLR9, TNF, NFKB2
32
Show member pathways
Transcription NF kB signaling pathway61
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response61
8.6NFKB2, TNF, TLR9
33
Show member pathways
Toll-like receptor signaling pathway39
Regulation of toll-like receptor signaling pathway39
8.6TLR9, TNF, NFKB2
34
Show member pathways
MAPK signaling pathway39
8.5TNF, PRKCD, NFKB2
35
Show member pathways
8.4CTLA4, ICOS, TNF, TNFRSF13C, TNFRSF13B
36
Show member pathways
8.3PRKCD, TNF, TNFRSF13C, TNFRSF13B, NCF4
37
Show member pathways
8.2TLR9, TNF, PRKCD, CR2, CD19
38
Show member pathways
8.2TLR9, TNFRSF13B, TNFRSF13C, TNF, PRKCD
39
Show member pathways
8.2PRKCD, TNF, TNFRSF13C, TNFRSF13B, TLR9
40
Show member pathways
Immune response Role of TLRs 3 and 4 in cell antiviral response TICAM1 specific signaling pathways61
Immune response IL 1 signaling pathway61
8.1TLR9, TNF, PRKCD, NFKB2
41
Show member pathways
Immune response BCR pathway61
Fc-epsilon receptor I signaling in mast cells39
7.9TNF, PRKCD, CR2, NFKB2, CD19
42
Show member pathways
BCR signaling pathway39
TCR Signaling Pathway39
7.8CTLA4, CD19, CR2, ICOS, PRKCD, TNF
43
Show member pathways
7.8TLR9, TNFRSF13C, TNF, PRKCD, NFKB2

Compounds for genes affiliated with Common Variable Immune Deficiency

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Sources:
30IUPHAR, 46Novoseek, 12DrugBank, 62Tocris Bioscience, 52PharmGKB, 25HMDB
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Compounds related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 35)
idCompoundScoreTop Affiliating Genes
1baff3010.2TNFRSF13B, TNFRSF13C
2okt3469.8CR2, TNF
3hydroxychloroquine46 1210.8TLR9, TNF
4abatacept46 1210.7CTLA4, TNF
5lipoteichoic acid469.7TLR9, TNF
6polyinosinic-polycytidylic acid469.7TNF, TLR9
7poly(i-c)469.7TNF, TLR9
8go 697646 6210.6TNF, PRKCD
9bcma469.6TNF, TNFRSF13C, TNFRSF13B
10blys469.6TNF, TNFRSF13C, TNFRSF13B
11mycophenolate mofetil46 52 1211.6CTLA4, TNF
12il 10469.5CTLA4, TNF
13peptidoglycan46 3010.5TNF, TLR9
14infliximab46 52 1211.5TNF, CTLA4
15doxorubicin46 52 1211.5PRKCD, NCF4, CD19
16sc 514629.4TNF, NFKB2
17bay 11-7085629.4TNF, NFKB2
18ro 106-9920629.4TNF, NFKB2
19imd 0354629.4TNF, NFKB2
20ccl346 3010.4TNF, TLR9
21celastrol46 6210.4NFKB2, TNF
22rituximab46 52 1211.3CTLA4, TNF
23indoleamine469.3TLR9, TNF, CTLA4
24rantes469.2CTLA4, TNF, TLR9
25glucosamine46 25 1211.2TNF, NFKB2
26ionomycin469.2TNF, PRKCD, CTLA4
27melphalan46 52 1211.0CTLA4, TNF
28threonine469.0PRKCD, CR2, NCF4, CTLA4
29arachidonic acid46 30 25 1212.0TNF, PRKCD, NCF4
30cyclosporin a46 30 6210.9TNF, CR2, CTLA4
31phosphatidylinositol468.8PRKCD, CR2, NCF4, CD19, CTLA4
32tyrosine468.6CTLA4, CD19, CR2, PRKCD, TLR9
33calcium46 52 25 1211.5TNFRSF13B, TNFRSF13C, PRKCD, CR2, CD19, CTLA4
34lipid468.4CTLA4, CD19, NCF4, PRKCD, TNF
35serine468.0TLR9, TNF, PRKCD, CR2, NCF4, CTLA4

GO Terms for genes affiliated with Common Variable Immune Deficiency

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17Gene Ontology
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Cellular components related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.0TNFRSF13B, TNF, ICOS, CD19, CTLA4
2external side of plasma membraneGO:0098977.6CTLA4, CD19, CR2, ICOS, TNF, TNFRSF13C
3plasma membraneGO:0058867.4CTLA4, CD19, CR2, ICOS, PRKCD, TNF

Biological processes related to Common Variable Immune Deficiency according to GeneCards/GeneDecks:

(show all 17)
idNameGO IDScoreTop Affiliating Genes
1B cell homeostasisGO:00178210.0TNFRSF13C, TNFRSF13B
2positive regulation of interferon-gamma biosynthetic processGO:04507810.0TNFRSF13C, TLR9
3negative regulation of B cell proliferationGO:0308899.8TNFRSF13B, CTLA4
4B cell receptor signaling pathwayGO:0508539.7CD19, CTLA4
5positive regulation of interleukin-18 productionGO:0327419.7TNF, TLR9
6T cell costimulationGO:0312959.6CTLA4, ICOS, TNFRSF13C
7positive regulation of chemokine productionGO:0327229.6TLR9, TNF
8B cell proliferationGO:0421009.6PRKCD, CR2
9positive regulation of NF-kappaB import into nucleusGO:0423469.6TNF, TLR9
10negative regulation of interleukin-6 productionGO:0327159.5TLR9, TNF
11positive regulation of JUN kinase activityGO:0435079.5TNF, TLR9
12positive regulation of interleukin-6 productionGO:0327559.3TNF, TLR9
13toll-like receptor 9 signaling pathwayGO:0341629.2NFKB2, TLR9
14immune responseGO:0069559.2ICOS, CR2, NCF4, CTLA4
15positive regulation of JNK cascadeGO:0463309.1TNF, TLR9
16positive regulation of NF-kappaB transcription factor activityGO:0510928.8NFKB2, TNF, TLR9
17innate immune responseGO:0450878.3TLR9, PRKCD, CR2, NFKB2, CD19

Products for genes affiliated with Common Variable Immune Deficiency

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Sources for Common Variable Immune Deficiency

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet