IMMUNODEFICIENCY, COMMON VARIABLE, 7

General Information (adopted from Orphanet):

Synonyms, Signs: CVID7
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614699
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:0002028) Chronic diarrhea 51 / 7739
2
(HPO:0002720) IgA deficiency 33 / 7739
3
(HPO:0004313) Decreased antibody level in blood 47 / 7739
4
(HPO:0002205) Recurrent respiratory infections 254 / 7739
5
(HPO:0002719) Recurrent infections 107 / 7739
6
(HPO:0002721) Immunodeficiency 97 / 7739
7
(OMIM) Proper antibody response to protein vaccinations 1 / 7739
8
(OMIM) Deceased IgG 2 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Low-normal IgM 1 / 7739
11
(OMIM) Decreased switched memory B cells 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Thiel et al. (2012) reported a 28-year-old man who presented with persistent myalgias, fever, sore throat, respiratory tract infections, and chronic diarrhea associated with Haemophilus influenza infection. He had a history of recurrent respiratory infections in childhood that ...
Molecular genetics OMIM In a patient with a mild form of combined variable immunodeficiency, Thiel et al. (2012) identified compound heterozygous mutations in the CD21 gene (120650.0002 and 120650.0003). Both mutations caused functionally null alleles, with lack of CD21 expression on ...