IMMUNODEFICIENCY, COMMON VARIABLE, 3

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO CD19 DEFECT
CVID3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 613493
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:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0000509) Conjunctivitis 47 / 7739
3
(HPO:0000403) Recurrent otitis media 61 / 7739
4
(HPO:0004313) Decreased antibody level in blood 47 / 7739
5
(HPO:0002205) Recurrent respiratory infections 254 / 7739
6
(HPO:0002721) Immunodeficiency 97 / 7739
7
(HPO:0002718) Recurrent bacterial infections 75 / 7739
8
(OMIM) Normal number of T cells 8 / 7739
9
(OMIM) Low or normal serum IgM 3 / 7739
10
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
11
(OMIM) Defective antibody production 6 / 7739
12
(OMIM) B cells lack surface CD19 expression 1 / 7739
13
(OMIM) Normal number of B cells 7 / 7739
14
(OMIM) Low serum IgG and IgA 3 / 7739
15
(OMIM) Glomerulonephritis, postinfectious (1 patient) 1 / 7739
16
(OMIM) Reduced number of memory B cells 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van Zelm et al. (2006) evaluated 4 patients from 2 unrelated families who had increased susceptibility to infection, hypogammaglobulinemia, and normal numbers of mature B cells in blood, indicating a B-cell antibody-deficient immunodeficiency disorder. The disorder was consistent ...
Molecular genetics OMIM In 4 patients with common variable immunodeficiency, van Zelm et al. (2006) identified homozygous mutations in the CD19 gene. Levels of CD19 were undetectable in 1 patient and substantially reduced in the other 3. Based on laboratory studies, ...