
Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1
Keywords: شبکه آندوپلاسمی ; ER; endoplasmic reticulum; STIM1; stromal interaction molecule 1; CRAC channel; calcium release-activated calcium channel; SOCE; store-operated calcium entry; SCID; severe combined immunodeficiency; PHA; phytohemagglutinin; WES; whole exome sequencing; OR