IMMUNODEFICIENCY, COMMON VARIABLE, 5

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO CD20 DEFECT
CVID5
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613495
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:0004313) Decreased antibody level in blood 47 / 7739
2
(HPO:0002205) Recurrent respiratory infections 254 / 7739
3
(HPO:0002718) Recurrent bacterial infections 75 / 7739
4
(HPO:0002721) Immunodeficiency 97 / 7739
5
(OMIM) Normal number of T cells 8 / 7739
6
(OMIM) Defective antibody production, particularly T-cell-independent 1 / 7739
7
(OMIM) Normal number of B cells 7 / 7739
8
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
(OMIM) Reduced number of memory B cells 4 / 7739
10
(OMIM) Low serum IgG and IgA 3 / 7739
11
(OMIM) B cells lack surface CD20 expression 1 / 7739
12
(OMIM) Low or normal serum IgM 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kuijpers et al. (2010) reported a Turkish girl, born of consanguineous parents, who developed recurrent respiratory infections and bronchopneumonia at age 2 years. At onset, she had low IgG and low IgA levels. During a follow-up of 4 ...
Molecular genetics OMIM In a Turkish girl with common variable immunodeficiency-5, Kuijpers et al. (2010) identified a homozygous mutation in the MS4A1 gene (112210.0001).