Catalog

Combined immunodeficiency due to STIM1 deficiency

No MMS code

Link to WHO Definition

Combined immunodeficiency due to STIM1 deficiency – http://id.who.int/icd/entity/8644198

Combined immunodeficiency (CID) due to STIM1 deficiency is a form of CID due to calcium release activated Ca2+(CRAC) channel dysfunction. It is characterised by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.