MCID: IMM037
MIFTS: 18

Immunodeficiency, Common Variable, 6

Categories: Genetic diseases, Immune diseases

Aliases & Classifications for Immunodeficiency, Common Variable, 6

MalaCards integrated aliases for Immunodeficiency, Common Variable, 6:

Name: Immunodeficiency, Common Variable, 6 57 75 13 73
Antibody Deficiency Due to Cd81 Defect 57 75
Common Variable Immunodeficiency 6 29 6
Cvid6 57 75
Immunodeficiency, Variable, Common, Type 6 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one patient has been reported (as of july 2010)


HPO:

32
immunodeficiency, common variable, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613496
MedGen 42 C3150741
MeSH 44 D017074
UMLS 73 C3150741

Summaries for Immunodeficiency, Common Variable, 6

UniProtKB/Swiss-Prot : 75 Immunodeficiency, common variable, 6: 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.

MalaCards based summary : Immunodeficiency, Common Variable, 6, is also known as antibody deficiency due to cd81 defect. An important gene associated with Immunodeficiency, Common Variable, 6 is CD81 (CD81 Molecule). Affiliated tissues include b cells and t cells, and related phenotypes are recurrent respiratory infections and immunodeficiency

Description from OMIM: 613496

Related Diseases for Immunodeficiency, Common Variable, 6

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 6

Symptoms via clinical synopsis from OMIM:

57
Respiratory:
respiratory infections, recurrent

Skin Nails Hair Skin:
purpura

Immunology:
recurrent bacterial infections
hypogammaglobulinemia
normal numbers of b cells
reduced numbers of memory b cells
b cells lack surface cd19 and cd81 expression
more
Genitourinary Kidneys:
glomerulonephritis, autoimmune

Hematology:
thrombocytopenia, autoimmune

Laboratory Abnormalities:
low serum igg and iga
low or normal serum igm


Clinical features from OMIM:

613496

Human phenotypes related to Immunodeficiency, Common Variable, 6:

32
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 32 HP:0002205
2 immunodeficiency 32 HP:0002721
3 decreased antibody level in blood 32 HP:0004313
4 purpura 32 HP:0000979
5 recurrent bacterial infections 32 HP:0002718

Drugs & Therapeutics for Immunodeficiency, Common Variable, 6

Search Clinical Trials , NIH Clinical Center for Immunodeficiency, Common Variable, 6

Genetic Tests for Immunodeficiency, Common Variable, 6

Genetic tests related to Immunodeficiency, Common Variable, 6:

# Genetic test Affiliating Genes
1 Common Variable Immunodeficiency 6 29 CD81

Anatomical Context for Immunodeficiency, Common Variable, 6

MalaCards organs/tissues related to Immunodeficiency, Common Variable, 6:

41
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 6

Variations for Immunodeficiency, Common Variable, 6

ClinVar genetic disease variations for Immunodeficiency, Common Variable, 6:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD81 NM_004356.3(CD81): c.561+1G> A single nucleotide variant Pathogenic rs587776775 GRCh38 Chromosome 11, 2395971: 2395971
2 CD81 NM_004356.3(CD81): c.561+1G> A single nucleotide variant Pathogenic rs587776775 GRCh37 Chromosome 11, 2417201: 2417201

Expression for Immunodeficiency, Common Variable, 6

Search GEO for disease gene expression data for Immunodeficiency, Common Variable, 6.

Pathways for Immunodeficiency, Common Variable, 6

GO Terms for Immunodeficiency, Common Variable, 6

Sources for Immunodeficiency, Common Variable, 6

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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