Devonshire AL, Makhija M. Approach to primary immunodeficiency. Allergy Asthma Proc. 2019;40(6):465–9.
Article CAS PubMed PubMed Central Google Scholar
Feske S, Picard C, Fischer A. Immunodeficiency due to mutations in ORAI1 and STIM1. Clin Immunol. 2010;135(2):169–82.
Article CAS PubMed PubMed Central Google Scholar
McCarl CA, Picard C, Khalil S, Kawasaki T, Röther J, Papolos A, et al. ORAI1 deficiency and lack of store-operated Ca2+ entry cause immunodeficiency, myopathy, and ectodermal dysplasia. J Allergy Clin Immunol. 2009;124(6):1311-8.e7.
Article CAS PubMed PubMed Central Google Scholar
Böhm J, Chevessier F, De Paula AM, Koch C, Attarian S, Feger C, Hantaï D, Laforêt P, Ghorab K, Vallat JM, Fardeau M. Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy. Am J Hum Genet. 2013;92(2):271–8.
Article PubMed PubMed Central Google Scholar
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.
Article PubMed PubMed Central Google Scholar
Lacruz RS, Feske S. Diseases caused by mutations in ORAI1 and STIM1. Ann N Y Acad Sci. 2015;1356(1):45–79.
Article CAS PubMed PubMed Central Google Scholar
Picard C, McCarl CA, Papolos A, Khalil S, Lüthy K, Hivroz C, et al. STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity. N Engl J Med. 2009;360(19):1971–80.
Article CAS PubMed PubMed Central Google Scholar
Karakus IS, Catak MC, Frohne A, Bayram Catak F, Yorgun Altunbas M, Babayeva R, et al. Rapamycin controls lymphoproliferation and reverses T-cell responses in a patient with a novel STIM1 loss-of-function deletion. J Clin Immunol. 2024;44(4):94.
Article CAS PubMed PubMed Central Google Scholar
Derakhshan D, Taherifard E, Taherifard E, Sajedianfard S, Derakhshan A. A novel frame shift mutation in STIM1 gene causing primary immunodeficiency. Intractable Rare Dis Res. 2020;9(2):109–12.
Article PubMed PubMed Central Google Scholar
Kahlfuss S, Kaufmann U, Concepcion AR, Noyer L, Raphael D, Vaeth M, et al. STIM1-mediated calcium influx controls antifungal immunity and the metabolic function of non-pathogenic Th17 cells. EMBO Mol Med. 2020;12(8):e11592.
Article CAS PubMed PubMed Central Google Scholar
Byun M, Abhyankar A, Lelarge V, Plancoulaine S, Palanduz A, Telhan L, et al. Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma. J Exp Med. 2010;207(11):2307–12.
Article CAS PubMed PubMed Central Google Scholar
Salvi A, Skrypnyk C, Da Silva N, Urtizberea JA, Bakhiet M, Robert C, et al. A novel bi-allelic loss-of-function mutation in STIM1 expands the phenotype of STIM1-related diseases. Clin Genet. 2021;100(1):84–9.
Article CAS PubMed Google Scholar
Schaballie H, Rodriguez R, Martin E, Moens L, Frans G, Lenoir C, et al. A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency. J Allergy Clin Immunol. 2015;136(3):816-9.e4.
Article CAS PubMed Google Scholar
Fuchs S, Rensing-Ehl A, Speckmann C, Bengsch B, Schmitt-Graeff A, Bondzio I, et al. Antiviral and regulatory T cell immunity in a patient with stromal interaction molecule 1 deficiency. J Immunol. 2012;188(3):1523–33.
Article CAS PubMed Google Scholar
Rice L, Stockdale C, Berry I, O’Riordan S, Pysden K, Anwar R, et al. A report of novel STIM1 deficiency and 6-year follow-up of two previous cases associated with mild immunological phenotype. J Clin Immunol. 2019;39(3):249–56.
Oh-Hora M, Yamashita M, Hogan PG, Sharma S, Lamperti E, Chung W, et al. Dual functions for the endoplasmic reticulum calcium sensors STIM1 and STIM2 in T cell activation and tolerance. Nat Immunol. 2008;9(4):432–43.
Article CAS PubMed PubMed Central Google Scholar
Silva-Rojas R, Laporte J, Böhm J. STIM1/ORAI1 loss-of-function and gain-of-function mutations inversely impact on SOCE and calcium homeostasis and cause multi-systemic mirror diseases. Front Physiol. 2020;11:604941.
Article PubMed PubMed Central Google Scholar
Vaeth M, Maus M, Klein-Hessling S, Freinkman E, Yang J, Eckstein M, et al. Store-operated Ca(2+) entry controls clonal expansion of T cells through metabolic reprogramming. Immunity. 2017;47(4):664-79.e6.
Article CAS PubMed PubMed Central Google Scholar
Wang S, Choi M, Richardson AS, Reid BM, Seymen F, Yildirim M, et al. STIM1 and SLC24A4 are critical for enamel maturation. J Dent Res. 2014;93(7 Suppl):94s–100s.
Article CAS PubMed PubMed Central Google Scholar
Parry DA, Holmes TD, Gamper N, El-Sayed W, Hettiarachchi NT, Ahmed M, et al. A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency. J Allergy Clin Immunol. 2016;137(3):955-7.e8.
Article CAS PubMed PubMed Central Google Scholar
Numaga-Tomita T, Putney JW. Role of STIM1- and Orai1-mediated Ca2+ entry in Ca2+-induced epidermal keratinocyte differentiation. J Cell Sci. 2013;126(Pt 2):605–12.
Article CAS PubMed PubMed Central Google Scholar
Concepcion AR, Vaeth M, Wagner LE 2nd, Eckstein M, Hecht L, Yang J, et al. Store-operated Ca2+ entry regulates Ca2+-activated chloride channels and eccrine sweat gland function. J Clin Invest. 2016;126(11):4303–18.
Article PubMed PubMed Central Google Scholar
Perez EE, Orange JS, Bonilla F, Chinen J, Chinn IK, Dorsey M, et al. Update on the use of immunoglobulin in human disease: a review of evidence. J Allergy Clin Immunol. 2017;139(3s):S1-s46.
Article CAS PubMed Google Scholar
Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP Jr. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015;136(5):1186–205.
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