A form of combined immunodeficiency characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.
Comprehensive, easy-to-understand information about this condition
Checking for content...
ataxia telangiectasia
MONDO:0008840
combined immunodeficiency due to ZAP70 deficiency
MONDO:0010023
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
MONDO:0010455
combined immunodeficiency due to moesin deficiency
MONDO:0010514
Wiskott-Aldrich syndrome
MONDO:0010518
MHC class I deficiency
MONDO:0011476