combined immunodeficiency due to STIM1 deficiency
Aform of combined immunodeficiency due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
MONDO:0015695
combined immunodeficiency due to CRAC channel dysfunction
is_a
CID due to STIM1 deficiency
exact
IMD10
related
immunodeficiency 10
related
immunodeficiency type 10
exact