CVID6
MCID: IMM037
MIFTS: 19

Immunodeficiency, Common Variable, 6 (CVID6)

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 72 13 70
Antibody Deficiency Due to Cd81 Defect 57 72
Common Variable Immunodeficiency 6 29 6
Cvid6 57 72
Immunodeficiency, Variable, Common, Type 6 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
immunodeficiency, common variable, 6:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613496
OMIM Phenotypic Series 57 PS607594
MeSH 44 D017074
MedGen 41 C3150741
UMLS 70 C3150741

Summaries for Immunodeficiency, Common Variable, 6

UniProtKB/Swiss-Prot : 72 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

More information from OMIM: 613496 PS607594

Related Diseases for Immunodeficiency, Common Variable, 6

Symptoms & Phenotypes for Immunodeficiency, Common Variable, 6

Human phenotypes related to Immunodeficiency, Common Variable, 6:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 recurrent respiratory infections 31 HP:0002205
2 immunodeficiency 31 HP:0002721
3 thrombocytopenia 31 HP:0001873
4 purpura 31 HP:0000979
5 recurrent bacterial infections 31 HP:0002718
6 glomerulonephritis 31 HP:0000099
7 decreased circulating antibody level 31 HP:0004313

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skin Nails Hair Skin:
purpura

Respiratory:
respiratory infections, recurrent

Genitourinary Kidneys:
glomerulonephritis, autoimmune

Immunology:
recurrent bacterial infections
hypogammaglobulinemia
normal numbers of b cells
defective antibody production
normal numbers of t cells
more
Laboratory Abnormalities:
low serum igg and iga
low or normal serum igm

Hematology:
thrombocytopenia, autoimmune

Clinical features from OMIM®:

613496 (Updated 05-Apr-2021)

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:

40
B Cells, T Cells

Publications for Immunodeficiency, Common Variable, 6

Articles related to Immunodeficiency, Common Variable, 6:

# Title Authors PMID Year
1
CD81 gene defect in humans disrupts CD19 complex formation and leads to antibody deficiency. 57 6
20237408 2010

Variations for Immunodeficiency, Common Variable, 6

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD81 NM_004356.3(CD81):c.561+1G>A SNV Pathogenic 12743 rs587776775 GRCh37: 11:2417201-2417201
GRCh38: 11:2395971-2395971
2 CD81 NM_004356.3(CD81):c.182-5G>A SNV Uncertain significance 626080 rs562261414 GRCh37: 11:2415320-2415320
GRCh38: 11:2394090-2394090
3 CD81 NM_004356.4(CD81):c.583G>A (p.Asp195Asn) SNV Uncertain significance 992559 GRCh37: 11:2417879-2417879
GRCh38: 11:2396649-2396649
4 CD81 NM_004356.4(CD81):c.597C>T (p.Ser199=) SNV Benign 810931 rs14077 GRCh37: 11:2417893-2417893
GRCh38: 11:2396663-2396663

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....