CVID1
MCID: IMM038
MIFTS: 30

Immunodeficiency, Common Variable, 1 (CVID1)

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 1

MalaCards integrated aliases for Immunodeficiency, Common Variable, 1:

Name: Immunodeficiency, Common Variable, 1 58 76 13 74
Antibody Deficiency Due to Icos Defect 58 76
Common Variable Immunodeficiency 1 30 6
Icos Deficiency 76 56
Cvid1 58 76
Immunodeficiency, Variable, Common, Type 1 41

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable age at onset, ranging from 18 months to 27 years


HPO:

33
immunodeficiency, common variable, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 1

OMIM : 58 Common variable immunodeficiency (CVID) is a clinically and genetically heterogeneous group of disorders characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections, and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B cells are usually in the normal range, but can be low. Most individuals with CVID have onset of infections after age 10 years. CVID represents the most common form of primary immunodeficiency disorders and is the most common form of primary antibody deficiency. Approximately 10 to 20% of patients with a diagnosis of CVID have a family history of the disorder (reviews by Chapel et al., 2008, Conley et al., 2009, and Yong et al., 2009). (607594)

MalaCards based summary : Immunodeficiency, Common Variable, 1, also known as antibody deficiency due to icos defect, is related to common variable immunodeficiency and immunodeficiency, common variable, 8, with autoimmunity, and has symptoms including diarrhea An important gene associated with Immunodeficiency, Common Variable, 1 is ICOS (Inducible T Cell Costimulator), and among its related pathways/superpathways are Allograft rejection and Immune response NFAT in immune response. Affiliated tissues include b cells, t cells and testes, and related phenotypes are neutropenia in presence of anti-neutropil antibodies and splenomegaly

UniProtKB/Swiss-Prot : 76 Immunodeficiency, common variable, 1: A primary immunodeficiency characterized by antibody deficiency, hypogammaglobulinemia, recurrent bacterial infections and an inability to mount an antibody response to antigen. The defect results from a failure of B-cell differentiation and impaired secretion of immunoglobulins; the numbers of circulating B-cells is usually in the normal range, but can be low.

Related Diseases for Immunodeficiency, Common Variable, 1

Diseases related to Immunodeficiency, Common Variable, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 common variable immunodeficiency 29.4 ICOS NFKB2
2 immunodeficiency, common variable, 8, with autoimmunity 11.1
3 immunodeficiency, common variable, 10 11.1
4 immunodeficiency, common variable, 12 11.1
5 immunodeficiency, common variable, 13 11.1
6 hepatitis 9.9
7 obstructive nephropathy 9.9
8 allergic encephalomyelitis 9.9

Graphical network of the top 20 diseases related to Immunodeficiency, Common Variable, 1:



Diseases related to Immunodeficiency, Common Variable, 1

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 1

Human phenotypes related to Immunodeficiency, Common Variable, 1:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 neutropenia in presence of anti-neutropil antibodies 33 occasional (7.5%) HP:0001904
2 splenomegaly 33 HP:0001744
3 hepatomegaly 33 HP:0002240
4 immunodeficiency 33 HP:0002721
5 recurrent otitis media 33 HP:0000403
6 impaired t cell function 33 HP:0005435
7 diarrhea 33 HP:0002014
8 conjunctivitis 33 HP:0000509
9 recurrent pneumonia 33 HP:0006532
10 pneumonia 33 HP:0002090
11 recurrent bacterial infections 33 HP:0002718
12 decreased circulating iga level 33 HP:0002720
13 decreased circulating igg level 33 HP:0004315
14 lymphadenopathy 33 HP:0002716
15 b lymphocytopenia 33 HP:0010976
16 bronchiectasis 33 HP:0002110
17 decreased circulating total igm 33 HP:0002850
18 recurrent bronchitis 33 HP:0002837
19 recurrent sinusitis 33 HP:0011108

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Immunology:
recurrent bacterial infections
lymphadenopathy
hypogammaglobulinemia
defective antibody production
normal numbers of t cells
more
Head And Neck Head:
sinusitis, recurrent

Respiratory Lung:
pneumonia, recurrent

Abdomen Liver:
hepatomegaly

Head And Neck Eyes:
conjunctivitis

Respiratory Airways:
bronchiectasis
bronchitis, recurrent

Head And Neck Ears:
otitis media, recurrent

Laboratory Abnormalities:
markedly reduced iga levels
markedly reduced igg levels
reduced igm levels

Clinical features from OMIM:

607594

UMLS symptoms related to Immunodeficiency, Common Variable, 1:


diarrhea

MGI Mouse Phenotypes related to Immunodeficiency, Common Variable, 1:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.62 ICOS NFKB2

Drugs & Therapeutics for Immunodeficiency, Common Variable, 1

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 1

Genetic Tests for Immunodeficiency, Common Variable, 1

Genetic tests related to Immunodeficiency, Common Variable, 1:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 1 30 ICOS

Anatomical Context for Immunodeficiency, Common Variable, 1

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 1:

42
B Cells, T Cells, Testes, Whole Blood

Publications for Immunodeficiency, Common Variable, 1

Articles related to Immunodeficiency, Common Variable, 1:

# Title Authors Year
1
ICOS deficiency results in exacerbated IL-17 mediated experimental autoimmune encephalomyelitis. ( 19291374 )
2009
2
Human ICOS deficiency abrogates the germinal center reaction and provides a monogenic model for common variable immunodeficiency. ( 16384931 )
2006
3
Rapid whole blood flow cytometric test to detect ICOS deficiency in patients with common variable immunodeficiency. ( 16757923 )
2006
4
ICOS deficiency in patients with common variable immunodeficiency. ( 15507387 )
2004
5
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. ( 12577056 )
2003

Variations for Immunodeficiency, Common Variable, 1

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 1:

6 (show all 21)
# Gene Variation Type Significance SNP ID Assembly Location
1 ICOS ICOS, EX2-3 DEL deletion Pathogenic
2 NFKB2 NM_002502.5(NFKB2): c.2564delA (p.Lys855Serfs) deletion Pathogenic rs397514331 GRCh37 Chromosome 10, 104161902: 104161902
3 NFKB2 NM_002502.5(NFKB2): c.2564delA (p.Lys855Serfs) deletion Pathogenic rs397514331 GRCh38 Chromosome 10, 102402145: 102402145
4 ICOS NM_012092.3(ICOS): c.58+9T> G single nucleotide variant Conflicting interpretations of pathogenicity rs140049646 GRCh38 Chromosome 2, 203936881: 203936881
5 ICOS NM_012092.3(ICOS): c.58+9T> G single nucleotide variant Conflicting interpretations of pathogenicity rs140049646 GRCh37 Chromosome 2, 204801604: 204801604
6 ICOS NM_012092.3(ICOS): c.150A> G (p.Gln50=) single nucleotide variant Benign/Likely benign rs55972840 GRCh38 Chromosome 2, 203955727: 203955727
7 ICOS NM_012092.3(ICOS): c.150A> G (p.Gln50=) single nucleotide variant Benign/Likely benign rs55972840 GRCh37 Chromosome 2, 204820450: 204820450
8 ICOS NM_012092.3(ICOS): c.501+7G> A single nucleotide variant Benign/Likely benign rs57149344 GRCh37 Chromosome 2, 204821495: 204821495
9 ICOS NM_012092.3(ICOS): c.501+7G> A single nucleotide variant Benign/Likely benign rs57149344 GRCh38 Chromosome 2, 203956772: 203956772
10 ICOS NM_012092.3(ICOS): c.40C> T (p.Arg14Cys) single nucleotide variant Benign rs77411896 GRCh37 Chromosome 2, 204801577: 204801577
11 ICOS NM_012092.3(ICOS): c.40C> T (p.Arg14Cys) single nucleotide variant Benign rs77411896 GRCh38 Chromosome 2, 203936854: 203936854
12 ICOS NM_012092.3(ICOS): c.531C> T (p.Asn177=) single nucleotide variant Likely benign rs370645286 GRCh37 Chromosome 2, 204822551: 204822551
13 ICOS NM_012092.3(ICOS): c.531C> T (p.Asn177=) single nucleotide variant Likely benign rs370645286 GRCh38 Chromosome 2, 203957828: 203957828
14 ICOS NM_012092.3(ICOS): c.401A> C (p.Gln134Pro) single nucleotide variant Uncertain significance rs367905290 GRCh38 Chromosome 2, 203956665: 203956665
15 ICOS NM_012092.3(ICOS): c.401A> C (p.Gln134Pro) single nucleotide variant Uncertain significance rs367905290 GRCh37 Chromosome 2, 204821388: 204821388
16 ICOS NM_012092.3(ICOS): c.186C> T (p.Leu62=) single nucleotide variant Likely benign rs1553499319 GRCh38 Chromosome 2, 203955763: 203955763
17 ICOS NM_012092.3(ICOS): c.186C> T (p.Leu62=) single nucleotide variant Likely benign rs1553499319 GRCh37 Chromosome 2, 204820486: 204820486
18 ICOS NM_012092.3(ICOS): c.394+2T> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 204820696: 204820696
19 ICOS NM_012092.3(ICOS): c.394+2T> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 203955973: 203955973
20 ICOS NM_012092.3(ICOS): c.586+2T> A single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 204822608: 204822608
21 ICOS NM_012092.3(ICOS): c.586+2T> A single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 203957885: 203957885

Expression for Immunodeficiency, Common Variable, 1

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 1.

Pathways for Immunodeficiency, Common Variable, 1

GO Terms for Immunodeficiency, Common Variable, 1

Sources for Immunodeficiency, Common Variable, 1

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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