Yin-Hu Wang

Keywords Down syndrome hyposalivation calcium signaling periodontal disease dysbiosis succinate metabolism Sjogren's disease cholinergic agonist salivary glands Research topic(s) CP: cell biology CP: microbiology Introduction Down syndrome (DS) is caused by trisomy of all or part of human chromosome 21 (Hsa21) affecting 1 in 700 births worldwide.1,2 All individuals with DS show some level of intellectual disability, and most will develop neurological changes similar to Alzheimer’s disease.3...

Abstract Stromal interaction molecule 1 (STIM1) is critical for store-operated Ca2+ entry (SOCE) and T cell activation. T helper 1 (TH1) cells, which express T-bet (encoded by TBX21), mediate immunity to intracellular pathogens. Although SOCE is known to regulate other TH lineages, its role in Th1 differentiation remains unclear. Here, we report a patient with an intronic loss-of-function mutation in STIM1, which abolishes SOCE and causes immunodeficiency.

Research Article AUTOIMMUNITY Access the full article View all access options to continue reading this article. Supplementary Materials Materials and Methods Figs. S1 to S32 Tables S1 to S4 MDAR Reproducibility Checklist REFERENCES AND NOTES 1 C. P. Mavragani, H. M. Moutsopoulos, Sjögren’s syndrome. Annu. Rev. Pathol. 9, 273–285 (2014). 2 P. Brito-Zerón, C. Baldini, H. Bootsma, S. J. Bowman, R. Jonsson, X. Mariette, K. Sivils, E. Theander, A. Tzioufas, M. Ramos-Casals, Sjögren syndrome. Nat. Rev. Dis.