combined immunodeficiency due to ORAI1 deficiency
A form of combined immunodeficiency due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
MONDO:0015695
combined immunodeficiency due to CRAC channel dysfunction
is_a
CID due to ORAI1 deficiency
exact
IMD9
related
immunodeficiency 9
related
immunodeficiency type 9
exact