CVID
MCID: CMM004
MIFTS: 63

Common Variable Immunodeficiency (CVID) malady

Rare diseases, Immune diseases, Blood diseases categories
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Summaries for Common Variable Immunodeficiency

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8Disease Ontology, 43NIH Rare Diseases, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Common variable immunodeficiency is a group of disorders in which the immune system cannot make antibodies in response to foreign substances that may cause infection.  the main features that separate cvid from other immunodeficiencies are low levels of two specific antibodies, immunoglobulin a (iga) and immunoglobulin g (igg).  individuals with this condition develop more frequent infections, particularly in the sinuses, lungs, and digestive tract.   cvid symptoms most commonly begin in early adulthood, but have been found in children as young as two years.  though some cases of cvid are caused by known genetic factors, the cause of most cases is unknown.   cvid can sometimes be treated by "replacing" antibodies into the body; this treatment is called "immunoglobulin therapy".  last updated: 10/25/2010

MalaCards: Common Variable Immunodeficiency, also known as common variable agammaglobulinemia, is related to interstitial lung disease and common variable immune deficiency. An important gene associated with Common Variable Immunodeficiency is MSH5 (mutS homolog 5), and among its related pathways are RANK Signaling in Osteoclasts and TRAF Pathway. The compounds baff and sulfolipid i have been mentioned in the context of this disorder. Affiliated tissues include b cells, t cells and lung, and related mouse phenotypes are homeostasis/metabolism and hematopoietic system.

Disease Ontology:8 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).

Description from OMIM:47 607594, 613496, 613494, 240500, 613493 613495 more

Aliases & Classifications for Common Variable Immunodeficiency

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8Disease Ontology, 43NIH Rare Diseases, 22GTR, 31LifeMap Discovery™, 62UMLS, 58SNOMED-CT, 40NCIt, 35MeSH, 47OMIM, 27ICD9CM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Immune diseases, Blood diseases


Aliases & Descriptions:

common variable immunodeficiency 8 43 31 62
common variable agammaglobulinemia 8 22
acquired hypogammaglobulinemia 8 62
cvid 8 43
common variable hypogamma-globulinemia 43
immunoglobulin deficiency, late-onset 43
hypogamma-globulinemia, acquired 43
sporadic hypogammaglobulinemia 8
acquired agammaglobulinemia 8


External Ids:

Disease Ontology8 DOID:12177
NCIt40 C26725
MeSH35 D017074
SNOMED-CT58 191010004, 23238000
ICD9CM27 279.06

Related Diseases for Common Variable Immunodeficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Common Variable Immunodeficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 230)
idRelated DiseaseScoreTop Affiliating Genes
1interstitial lung disease30.8CD79A
2common variable immune deficiency30.7TNFRSF13B, TNFRSF13C, ICOS
3autoimmune hemolytic anemia30.7CD40LG, CD79A
4lupus erythematosus30.6CD40LG, CD79A
5systemic lupus erythematosus30.6CD27, TNFSF13B
6agammaglobulinemia30.6SH2D1A, CD79A, CD40LG
7infectious mononucleosis30.4CD40LG, CD79A, SH2D1A
8leukemia30.2SH2D1A, VPREB1, CD27, CD79A, CD40LG
9toxoplasmosis30.2CD79A, CD40LG
10rheumatoid arthritis30.1CD40LG, CD79A, CD27, TNFSF13B, TNFRSF13C
11polyneuropathy30.1CD40LG, CD79A
12multiple sclerosis30.0TNFRSF13B, TNFRSF13C, TNFSF13B, CD27
13vasculitis30.0CD40LG, CD79A, SH2D1A, TNFSF13B
14non-hodgkin lymphoma30.0TNFRSF13B, TNFRSF13C, TNFSF13B, SH2D1A, CD27
15immunodeficiency, common variable, 910.6
16pneumonia10.6
17common variable immunodeficiency due to an intrinsic t cell defect10.6
18hepatitis10.5
19purpura10.5
20hemolytic anemia10.5
21retinitis10.5
22bronchiectasis10.4
23arthritis10.4
24meningitis10.4
25sarcoidosis10.4
26hepatitis c10.4
27evans' syndrome10.3
28autoimmune lymphoproliferative syndrome10.3
29strongyloidiasis10.3
30celiac disease10.3
31alopecia10.3
32amyloidosis10.3
33asthma10.3
34diarrhea10.3
35encephalitis10.3
36herpes simplex10.3
37influenza10.3
38t cell deficiency10.3
39uveitis10.3
40nodular regenerative hyperplasia10.3
41immunodeficiency, common variable, 110.3
42crohn's disease10.2
43myelitis10.2
44autoimmune thrombocytopenic purpura10.2
45bronchiolitis10.2
46giardiasis10.2
47progressive multifocal leukoencephalopathy10.2
48duodenitis10.2
49epidermodysplasia verruciformis10.2
50inclusion body myositis10.2

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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Sources:
47OMIM
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Clinical features from OMIM:

607594,613496,613494,240500,613493,613495

Drugs & Therapeutics for Common Variable Immunodeficiency

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Sources:
42NIH Clinical Center, 6ClinicalTrials, 31LifeMap Discovery™
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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
The database of embryonic development, stem cell research and regenerative medicine
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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22GTR
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Genetic tests related to Common Variable Immunodeficiency:

id Genetic test Affiliating Genes
1 Common Variable Agammaglobulinemia22

Anatomical Context for Common Variable Immunodeficiency

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33MalaCards
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MalaCards organs/tissues related to Common Variable Immunodeficiency:

33
B cells, T cells, Lung, Liver, Bone, Monocytes, Testes, Bone marrow, Whole blood, Smooth muscle, Skin, Brain, Small intestine

Animal Models for Common Variable Immunodeficiency or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Common Variable Immunodeficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.8TNFRSF13C, SH2D1A, ICOS, CD79A, CD40LG, TNFRSF13B
2MP:00053976.0CD40LG, TNFRSF13B, TNFRSF13C, TNFSF13B, SH2D1A, VPREB1
3MP:00053875.8TNFRSF13B, TNFRSF13C, TNFSF13B, SH2D1A, VPREB1, ICOS

Publications for Common Variable Immunodeficiency

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Sources:
52PubMed
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Articles related to Common Variable Immunodeficiency:

(show top 50)    (show all 612)
idTitleAuthorsYear
1
Cytomegalovirus disease in patients with common variable immunodeficiency: three case reports. (24247002)
2014
2
Celiac disease and common variable immunodeficiency: a familial inheritance? (24369335)
2013
3
AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. (23731676)
2013
4
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
5
Germline mutations in NFKB2 implicate the noncanonical NF-I_B pathway in the pathogenesis of common variable immunodeficiency. (24140114)
2013
6
The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. (22526591)
2012
7
Common variable immunodeficiency presenting with persistent parvovirus B19 infection. (23129076)
2012
8
Health related quality of life in common variable immunodeficiency. (22477006)
2012
9
Expression of essential B cell development genes in horses with common variable immunodeficiency. (22464097)
2012
10
Genome-wide association identifies diverse causes of common variable immunodeficiency. (21497890)
2011
11
Cell-mediated immune responses to inactivated trivalent influenza-vaccination are decreased in patients with common variable immunodeficiency. (21889412)
2011
12
Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease. (20629103)
2011
13
Evaluation of CARMA1/CARD11 and Bob1 as candidate genes in common variable immunodeficiency. (21905497)
2011
14
Hyper-IgM, neutropenia, mild infections and low response to polyclonal stimulation: hyper-IgM syndrome or common variable immunodeficiency? (22230404)
2011
15
Analysis of bulk and virus-specific CD8+ T cells reveals advanced differentiation of CD8+ T cells in patients with common variable immunodeficiency. (21873117)
2011
16
Correlation between common variable immunodeficiency clinical phenotypes and parental consanguinity in children and adults. (20945602)
2010
17
A CT scan score for the assessment of lung disease in children with common variable immunodeficiency disorders. (20299624)
2010
18
Detection of pulmonary complications in common variable immunodeficiency. (19912551)
2010
19
Toll-like receptor-9 gene polymorphism in common variable immunodeficiency. (20635795)
2010
20
Characterization of lymphocyte subsets in patients with common variable immunodeficiency reveals subsets of naive human B cells marked by CD24 expression. (21041728)
2010
21
Common variable immunodeficiency: a heterogeneous group needs further subclassification. (20477686)
2009
22
Common variable immunodeficiency with regulatory T-cell deficiency treated with rapamycin. (19230472)
2009
23
Burkitt lymphoma in the setting of common variable immunodeficiency. (19252909)
2009
24
The role of costimulation in antibody deficiencies: ICOS and common variable immunodeficiency. (19426217)
2009
25
Gastric adenocarcinoma occurring in a young patient with common variable immunodeficiency syndrome. (19551296)
2009
26
T-cell homeostasis: the dark(ened) side of common variable immunodeficiency. (18606891)
2008
27
Response to polysaccharide vaccination amongst pediatric patients with common variable immunodeficiency correlates with clinical disease. (19052353)
2008
28
Genetic defects in common variable immunodeficiency. (17627754)
2007
29
Mortality and morbidity in common variable immunodeficiency. (17166933)
2007
30
Deconstructing common variable immunodeficiency by genetic analysis. (17467261)
2007
31
Effect of regular intravenous immunoglobulin therapy on prevention of pneumonia in patients with common variable immunodeficiency. (16604243)
2006
32
Aggressive natural killer cell leukemia in a patient with common variable immunodeficiency syndrome. (16785152)
2006
33
Elevated levels of activated CD4 T cells in common variable immunodeficiency: association with clinical findings. (16854344)
2006
34
Lymphocytic interstitial pneumonia associated with common variable immunodeficiency resolved with intravenous immunoglobulins. (17114373)
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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Expression for genes affiliated with Common Variable Immunodeficiency

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Common Variable Immunodeficiency

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

Pathways for genes affiliated with Common Variable Immunodeficiency

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Sources:
50PathCards, 53QIAGEN, 38NCBI BioSystems Database, 60Thomson Reuters, 30KEGG, 5Cell Signaling Technology, 57SinoBiological, 54R&D Systems
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Pathways related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
RANKL/RANK Signaling Pathway38
Apoptosis and survival APRIL and BAFF signaling60
9.0TNFSF13B, TNFRSF13C, TNFRSF13B
2
Show member pathways
9.0TNFRSF13B, TNFRSF13C, TNFSF13B
3
Show member pathways
BCR signaling pathway38
TCR Signaling Pathway38
8.9CD40LG, CD79A, ICOS
4
Show member pathways
Apoptosis and survival Anti apoptotic TNFs NF kB IAP pathway60
8.8CD40LG, TNFSF13B, TNFRSF13B
58.8CD40LG, TNFSF13B, TNFRSF13C
68.6CD79A, SH2D1A, TNFSF13B
78.3CD40LG, CD79A, ICOS, TNFRSF13C, TNFRSF13B
8
Show member pathways
8.1TNFRSF13B, TNFRSF13C, TNFSF13B, ICOS, CD40LG
9
Show member pathways
7.9TNFRSF13B, TNFRSF13C, TNFSF13B, CD27, CD40LG
10
Show member pathways
7.9TNFRSF13B, TNFRSF13C, TNFSF13B, CD27, CD40LG

Compounds for genes affiliated with Common Variable Immunodeficiency

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29IUPHAR, 45Novoseek, 11DrugBank, 51PharmGKB, 24HMDB
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Compounds related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show all 33)
idCompoundScoreTop Affiliating Genes
1baff2910.2TNFRSF13C, TNFRSF13B
2sulfolipid i459.7CD79A, CD40LG
3sandoglobulin459.7CD40LG, CD79A
4fluconazole45 1110.7CD79A, SH2D1A
5gamma globulin459.7CD40LG, CD79A
6vancomycin45 1110.7CD40LG, CD79A
7pneumococcal459.7CD79A, CD40LG
8tuberculin459.7CD40LG, CD79A
9praziquantel45 1110.7CD79A, CD40LG
10hemocyanin459.7CD40LG, CD79A
11gliadin459.7CD40LG, CD79A
12pmma459.7CD40LG, CD79A
13silicone459.7CD79A, CD40LG
14mannan459.6CD40LG, CD79A
15okt3459.6CD79A, CD40LG
16glutaraldehyde459.6CD40LG, CD79A
17sulfasalazine29 45 51 1112.6CD79A, CD40LG
18cardiolipin45 1110.6CD40LG, CD79A
19valproate459.6CD40LG, CD79A
20mycophenolate mofetil45 51 1111.6CD79A, CD40LG
21phenytoin45 51 29 1112.5CD40LG, CD79A
22anti-fungal459.5CD79A, CD40LG
23ivig459.5CD40LG, CD79A
24doxycycline45 1110.4CD40LG, CD79A
25vitamin b12459.4CD79A, CD40LG
26neopterin459.3CD40LG, CD79A
27theophylline45 29 24 1112.3CD40LG, CD79A
28cytidine45 24 1111.3CD40LG, CD79A, ICOS
29allergens459.2CD79A, CD40LG
30rituximab45 51 1110.9TNFSF13B, CD79A, CD40LG
31bcma458.9TNFRSF13B, TNFRSF13C, TNFSF13B, CD27
32blys458.2CD40LG, CD79A, TNFSF13B, TNFRSF13C, TNFRSF13B
33calcium45 51 24 1110.7CD27, SH2D1A, TNFSF13B, TNFRSF13C, TNFRSF13B

GO Terms for genes affiliated with Common Variable Immunodeficiency

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16Gene Ontology
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Cellular components related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1integral component of plasma membraneGO:0058878.7CD40LG, CD27, ICOS, TNFRSF13B
2external side of plasma membraneGO:0098977.4CD40LG, TNFRSF13B, TNFRSF13C, ICOS, CD27, CD79A

Biological processes related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1B cell costimulationGO:0312969.5TNFSF13B, TNFRSF13C
2positive regulation of germinal center formationGO:0026369.4TNFRSF13C, TNFSF13B
3B cell proliferationGO:0421009.3CD40LG, CD79A
4B cell differentiationGO:0301839.3CD40LG, CD79A
5immunoglobulin secretionGO:0483059.3TNFSF13B, CD40LG
6positive regulation of B cell proliferationGO:0308909.2TNFSF13B, TNFRSF13C
7B cell homeostasisGO:0017829.2TNFSF13B, TNFRSF13C, TNFRSF13B
8positive regulation of T cell proliferationGO:0421029.0TNFSF13B, TNFRSF13C
9T cell costimulationGO:0312959.0TNFRSF13C, TNFSF13B, ICOS

Molecular functions related to Common Variable Immunodeficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1tumor necrosis factor receptor bindingGO:0051649.1CD40LG, TNFSF13B

Products for genes affiliated with Common Variable Immunodeficiency

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  • Antibodies
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Sources for Common Variable Immunodeficiency

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet