immunodeficiency 9 (DOID:0111976)
Alliance: disease page
Synonyms: CID due to ORAI1 deficiency; combined immunodeficiency due to ORAI1 deficiency; IMD9; immune dysfunction with T-cell inactivation due to calcium entry defect 1
Alt IDs: OMIM:612782, MESH:C557826, ORDO:317428, UMLS_CUI:C2748568
Definition: A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31.