Condition: Immune dysfunction with T-cell inactivation due to calcium entry defect 2


rs397514671 in STIM1 gene and Immune dysfunction with T-cell inactivation due to calcium entry defect 2 PMID 22190180 2012 Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency.

PMID 19420366 2009 STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity.

PMID 26436962 2015 Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.

PMID 24591628 2014 Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis.

PMID 25044882 2014 Gain-of-Function Mutation in STIM1 (P.R304W) Is Associated with Stormorken Syndrome.

PMID 24619930 2014 A dominant STIM1 mutation causes Stormorken syndrome.

PMID 28624464 2017 Complex phenotypes associated with STIM1 mutations in both coiled coil and EF-hand domains.

PMID 25577287 2015 York platelet syndrome is a CRAC channelopathy due to gain-of-function mutations in STIM1.

PMID 24570283 2014 Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations.