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Quoted phrase not found in phrase index: "Combined immunodeficiency due to STIM1 deficiency"
Page 1
ORAI1 mutations abolishing store-operated Ca(2+) entry cause anhidrotic ectodermal dysplasia with immunodeficiency.
Lian J, Cuk M, Kahlfuss S, Kozhaya L, Vaeth M, Rieux-Laucat F, Picard C, Benson MJ, Jakovcevic A, Bilic K, Martinac I, Stathopulos P, Kacskovics I, Vraetz T, Speckmann C, Ehl S, Issekutz T, Unutmaz D, Feske S. Lian J, et al. J Allergy Clin Immunol. 2018 Oct;142(4):1297-1310.e11. doi: 10.1016/j.jaci.2017.10.031. Epub 2017 Nov 16. J Allergy Clin Immunol. 2018. PMID: 29155098 Free PMC article.
Ca(2+) release-activated Ca(2+) channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) 1 and STIM2. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome …
Ca(2+) release-activated Ca(2+) channels are formed by ORAI1, ORAI2, and ORAI3 proteins and activated by stromal interaction molecule (STIM) …
Increased hydrophobicity at the N terminus/membrane interface impairs gating of the severe combined immunodeficiency-related ORAI1 mutant.
Derler I, Fahrner M, Carugo O, Muik M, Bergsmann J, Schindl R, Frischauf I, Eshaghi S, Romanin C. Derler I, et al. J Biol Chem. 2009 Jun 5;284(23):15903-15. doi: 10.1074/jbc.M808312200. Epub 2009 Apr 14. J Biol Chem. 2009. PMID: 19366689 Free PMC article.
Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling. ...However, substitution by hydrophobic leucine, valine, or phenylalanine resulted in non-functional ORAI1 channels, despite preserved STIM1 coupling. Besides …
Patients with severe combined immune deficiency (SCID) suffer from defective T-cell Ca2+ signaling. ...However, substitution b …