Combined immunodeficiency due to ORAI1 deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: IMMUNE DYSFUNCTION WITH T-CELL INACTIVATION DUE TO CALCIUM ENTRY DEFECT 1
IMD9
CID due to ORAI1 deficiency
Number of Symptoms 13
OrphanetNr: 317428
OMIM Id: 612782
ICD-10: D81.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Combined immunodeficiency due to CRAC channel dysfunction
 -Rare genetic disease
 -Rare immune disease

Symptom Information: Sort by abundance 

1
 (HPO:0011107) Recurrent aphthous stomatitis 13 / 7739
2
 (HPO:0001508) Failure to thrive 454 / 7739
3
 (HPO:0007476) Anhidrotic ectodermal dysplasia 4 / 7739
4
 (HPO:0001954) Episodic fever 27 / 7739
5
 (HPO:0002719) Recurrent infections 107 / 7739
6
 (HPO:0001252) Muscular hypotonia 990 / 7739
7
 (MedDRA:10025260) Lymphocyte count normal 2 / 7739
8
 (OMIM) Impaired seroconversion of immunoglobulins in response to vaccination 2 / 7739
9
 (OMIM) Decreased T cell production of cytokines 2 / 7739
10
 (OMIM) Impaired T cell activation 2 / 7739
11
 (OMIM) Normal serum immunoglobulin levels 2 / 7739
12
 (OMIM) Myopathy, nonprogressive 3 / 7739
13
 (OMIM) Impaired T cell proliferative response 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Feske et al. (1996) reported 2 brothers, born to consanguineous Turkish parents, with an immune disorder characterized by intermittent fever and aphthous stomatitis from the neonatal period. Both showed failure to thrive and muscular hypotonia. The older boy ...
Molecular genetics OMIM Feske et al. (2006) showed that the patients with immune dysfunction due to impaired T-cell activation described by Feske et al. (1996) were homozygous for a mutation in the ORAI1 gene (610277.0001). Lack of a functional CRAC current ...