ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia
CA McCarl, C Picard, S Khalil, T Kawasaki… - Journal of Allergy and …, 2009 - Elsevier
BACKGROUND: Defects in the development or activation of T cells result in
immunodeficiency associated with severe infections early in life. T-cell activation requires
Ca2+ influx through Ca2+-release activated Ca2+ (CRAC) channels encoded by the gene
ORAI1. OBJECTIVE: Investigation of the genetic causes and the clinical phenotype of
immunodeficiency in patients with impaired Ca2+ influx and CRAC channel function.
METHODS: DNA sequence analysis for mutations in the genes ORAI1, ORAI2, ORAI3, and …
immunodeficiency associated with severe infections early in life. T-cell activation requires
Ca2+ influx through Ca2+-release activated Ca2+ (CRAC) channels encoded by the gene
ORAI1. OBJECTIVE: Investigation of the genetic causes and the clinical phenotype of
immunodeficiency in patients with impaired Ca2+ influx and CRAC channel function.
METHODS: DNA sequence analysis for mutations in the genes ORAI1, ORAI2, ORAI3, and …