Condition: Immune dysfunction with T-cell inactivation due to calcium entry defect 1
rs118203993
in
ORAI1
gene and
Immune dysfunction with T-cell inactivation due to calcium entry defect 1
PMID 16147976
2005 A severe defect in CRAC Ca2+ channel activation and altered K+ channel gating in T cells from immunodeficient patients.
PMID 16582901
2006 A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.