Combined immunodeficiency due to ORAI1 deficiency

Orpha code: 317428OMIM code: 612782

Definicja

Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

Disease data
Klasyfikacja

Clinical subtype

Synonimy
CID due to ORAI1 deficiency
CID z powodu niedoboru ORAI1
Kod ORPHA
317428
Kod OMIM
612782
Kod ICD10
D81.8
Kod ICD11
-

No additional description.

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