Catalog

Combined immunodeficiency due to ORAI1 deficiency

No MMS code

Link to WHO Definition

Combined immunodeficiency due to ORAI1 deficiency – http://id.who.int/icd/entity/677672007

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to calcium release activated Ca2+ (CRAC) channel dysfunction. It is characterised by recurrent infections, congenital myopathy, ectodermal dysplasia and anhidrosis.