Combined immunodeficiency due to CRAC channel dysfunction

Orpha code: 169090OMIM code: 612783

Definition

Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the <i>ORAI1</i> and <i>STIM1</i> genes: CID due to <i>ORAI1</i> deficiency and CID due to <i>STIM1</i> deficiency.

Disease data
Classification

Disease

Synonyms
Immune dysfunction due to T-cell inactivation due to calcium entry defect
Dysfunkcja odporności z powodu inaktywacji komórek T spowodowanych defektem wejścia wapnia
ORPHA code
169090
OMIM code
612783
ICD10 code
D81.8
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl