Patients with inherited loss-of-function (LoF) mutations in Orai1 (e.g. R91W mutation) develop a CRAC channelopathy with symptoms including combined immunodeficiency, ectodermal dysplasia, muscular hypotonia, and autoimmunity (Feske et al., 2006; Lian et al., 2018; McCarl et al., 2009). The gene discussed is ORAI1; the disease is immunodeficiency disease.