IMMUNODEFICIENCY, COMMON VARIABLE, 6

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO CD81 DEFECT
CVID6
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613496
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000979) Purpura 27 / 7739
2
(HPO:0001973) Autoimmune thrombocytopenia 18 / 7739
3
(HPO:0004313) Decreased antibody level in blood 47 / 7739
4
(HPO:0002205) Recurrent respiratory infections 254 / 7739
5
(HPO:0002721) Immunodeficiency 97 / 7739
6
(HPO:0002718) Recurrent bacterial infections 75 / 7739
7
(OMIM) Glomerulonephritis, autoimmune 1 / 7739
8
(OMIM) Low or normal serum IgM 3 / 7739
9
(OMIM) Defective antibody production 6 / 7739
10
(OMIM) Low serum IgG and IgA 3 / 7739
11
(OMIM) Reduced number of memory B cells 4 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(OMIM) B cells lack surface CD19 and CD81 expression 1 / 7739
14
(OMIM) Normal number of B cells 7 / 7739
15
(OMIM) Normal number of T cells 8 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Zelm et al. (2010) reported a 6-year-old Moroccan girl, born of consanguineous parents, who had recurrent respiratory tract infections in the first 2 years of life. At age 3.5 years, she developed an acute glomerulonephritis with proteinuria, ...
Molecular genetics OMIM In a Moroccan girl with common variable immunodeficiency, van Zelm et al. (2010) identified a homozygous mutation in the CD81 gene (186845.0001).