IMMUNODEFICIENCY, COMMON VARIABLE, 4

General Information (adopted from Orphanet):

Synonyms, Signs: ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT
CVID4
Number of Symptoms 15
OrphanetNr:
OMIM Id: 613494
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0011108) Recurrent sinusitis 30 / 7739
2
(HPO:0004315) IgG deficiency 38 / 7739
3
(HPO:0004313) Decreased antibody level in blood 47 / 7739
4
(HPO:0006532) Recurrent pneumonia 48 / 7739
5
(HPO:0002721) Immunodeficiency 97 / 7739
6
(HPO:0002718) Recurrent bacterial infections 75 / 7739
7
(OMIM) Decreased numbers of mature B cells 1 / 7739
8
(HPO:0003581) Adult onset 117 / 7739
9
(HPO:0003812) Phenotypic variability 129 / 7739
10
(OMIM) Defective antibody production 6 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(OMIM) Normal number of T cells 8 / 7739
13
(OMIM) Normal serum and mucosal IgA 1 / 7739
14
(OMIM) Normal or increased numbers of transitional B cells 1 / 7739
15
(OMIM) Decreased serum IgM 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Warnatz et al. (2009) reported a 57-year-old man, born of consanguineous parents, who had a lifelong history of chronic sinusitis and a first episode of pneumonia at age 37 years. At age 57, he received a clinical diagnosis ...
Molecular genetics OMIM In 2 sibs with adult-onset common variable immunodeficiency, Warnatz et al. (2009) identified a homozygous deletion in the BAFFR gene (606269.0001). The authors emphasized the phenotypic differences between the 2 sibs, which suggested a residual sufficient potential to ...