IMMUNODEFICIENCY 25

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 6
OrphanetNr:
OMIM Id: 610163
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:0004385) Protracted diarrhea 16672702 IBIS 3 / 7739
2
(HPO:0001880) Eosinophilia 16672702 IBIS 35 / 7739
3
(HPO:0005403) T lymphocytopenia 16672702 IBIS 10 / 7739
4
(HPO:0002721) Immunodeficiency 16672702 IBIS 97 / 7739
5
(HPO:0005353) Susceptibility to herpesvirus 16672702 IBIS 2 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Alarcon et al. (1988) described 2 brothers who had a low expression of antigen receptor on the surface of their T lymphocytes. Functional analyses of their T cells showed impaired immune response to alloantigens, tetanus toxoid, and mitogens. ...
Molecular genetics OMIM In a boy with primary T-cell immunodeficiency, Rieux-Laucat et al. (2006) identified homozygosity for a germline Q70X mutation in the CD247 gene (186780.0001). Some of the patient's T cells had low levels of the T-cell receptor-CD3 complex and ...