MCID: IMM038
MIFTS: 30

Immunodeficiency, Common Variable, 1

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 57 75 13 73
Antibody Deficiency Due to Icos Defect 57 75
Common Variable Immunodeficiency 1 29 6
Icos Deficiency 75 55
Cvid1 57 75
Immunodeficiency, Variable, Common, Type 1 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
immunodeficiency, common variable, 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Immunodeficiency, Common Variable, 1

OMIM : 57 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 NF-kappaB Signaling. Affiliated tissues include b cells, t cells and testes, and related phenotypes are recurrent otitis media and conjunctivitis

UniProtKB/Swiss-Prot : 75 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 28.4 ICOS NFKB2
2 immunodeficiency, common variable, 8, with autoimmunity 10.9
3 immunodeficiency, common variable, 10 10.9
4 immunodeficiency, common variable, 12 10.9
5 immunodeficiency, common variable, 13 10.9

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

Symptoms via clinical synopsis from OMIM:

57
AbdomenSpleen:
splenomegaly

Abdomen Gastrointestinal:
diarrhea
enteritis, recurrent

Immunology:
lymphadenopathy
recurrent bacterial infections
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

Human phenotypes related to Immunodeficiency, Common Variable, 1:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 recurrent otitis media 32 HP:0000403
2 conjunctivitis 32 HP:0000509
3 splenomegaly 32 HP:0001744
4 autoimmune neutropenia 32 occasional (7.5%) HP:0001904
5 diarrhea 32 HP:0002014
6 pneumonia 32 HP:0002090
7 bronchiectasis 32 HP:0002110
8 hepatomegaly 32 HP:0002240
9 lymphadenopathy 32 HP:0002716
10 recurrent bacterial infections 32 HP:0002718
11 iga deficiency 32 HP:0002720
12 immunodeficiency 32 HP:0002721
13 recurrent bronchitis 32 HP:0002837
14 igm deficiency 32 HP:0002850
15 igg deficiency 32 HP:0004315
16 impaired t cell function 32 HP:0005435
17 recurrent pneumonia 32 HP:0006532
18 b lymphocytopenia 32 HP:0010976
19 recurrent sinusitis 32 HP:0011108

UMLS symptoms related to Immunodeficiency, Common Variable, 1:


diarrhea

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

46
# 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 29 ICOS

Anatomical Context for Immunodeficiency, Common Variable, 1

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

41
B Cells, T Cells, Testes, Whole Blood

Publications for Immunodeficiency, Common Variable, 1

Articles related to Immunodeficiency, Common Variable, 1:

# Title Authors Year
1
Impaired CD4 and CD8 effector function and decreased memory T cell populations in ICOS-deficient patients. ( 19380800 )
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

Variations for Immunodeficiency, Common Variable, 1

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

6
(show all 17)
# Gene Variation Type Significance SNP ID Assembly Location
1 ICOS ICOS, EX2-3 DEL deletion Pathogenic
2 NFKB2 NM_001288724.1(NFKB2): c.2564delA (p.Lys855Serfs) deletion Pathogenic rs397514331 GRCh37 Chromosome 10, 104161902: 104161902
3 NFKB2 NM_001288724.1(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 GRCh37 Chromosome 2, 204801604: 204801604
5 ICOS NM_012092.3(ICOS): c.58+9T> G single nucleotide variant Conflicting interpretations of pathogenicity rs140049646 GRCh38 Chromosome 2, 203936881: 203936881
6 ICOS NM_012092.3(ICOS): c.150A> G (p.Gln50=) single nucleotide variant Benign/Likely benign rs55972840 GRCh37 Chromosome 2, 204820450: 204820450
7 ICOS NM_012092.3(ICOS): c.150A> G (p.Gln50=) single nucleotide variant Benign/Likely benign rs55972840 GRCh38 Chromosome 2, 203955727: 203955727
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 GRCh37 Chromosome 2, 204821388: 204821388
15 ICOS NM_012092.3(ICOS): c.401A> C (p.Gln134Pro) single nucleotide variant Uncertain significance rs367905290 GRCh38 Chromosome 2, 203956665: 203956665
16 ICOS NM_012092.3(ICOS): c.186C> T (p.Leu62=) single nucleotide variant Likely benign GRCh37 Chromosome 2, 204820486: 204820486
17 ICOS NM_012092.3(ICOS): c.186C> T (p.Leu62=) single nucleotide variant Likely benign GRCh38 Chromosome 2, 203955763: 203955763

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
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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