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Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Giannelou A, Wang H, Zhou Q, Park YH, Abu-Asab MS, Ylaya K, Stone DL, Sediva A, Sleiman R, Sramkova L, Bhatla D, Serti E, Tsai WL, Yang D, Bishop K, Carrington B, Pei W, Deuitch N, Brooks S, Edwan JH, Joshi S, Prader S, Kaiser D, Owen WC, Sonbul AA, Zhang Y, Niemela JE, Burgess SM, Boehm M, Rehermann B, Chae J, Quezado MM, Ombrello AK, Buckley RH, Grom AA, Remmers EF, Pachlopnik JM, Su HC, Gutierrez-Cruz G, Hewitt SM, Sood R, Risma K, Calvo KR, Rosenzweig SD, Gadina M, Hafner M, Sun HW, Kastner DL, Aksentijevich I. Giannelou A, et al. Among authors: grom aa. Ann Rheum Dis. 2018 Apr;77(4):612-619. doi: 10.1136/annrheumdis-2017-212401. Epub 2018 Jan 22. Ann Rheum Dis. 2018. PMID: 29358286 Free PMC article.
A novel STING1 variant causes a recessive form of STING-associated vasculopathy with onset in infancy (SAVI).
Lin B, Berard R, Al Rasheed A, Aladba B, Kranzusch PJ, Henderlight M, Grom A, Kahle D, Torreggiani S, Aue AG, Mitchell J, de Jesus AA, Schulert GS, Goldbach-Mansky R. Lin B, et al. Among authors: grom a. J Allergy Clin Immunol. 2020 Nov;146(5):1204-1208.e6. doi: 10.1016/j.jaci.2020.06.032. Epub 2020 Jul 13. J Allergy Clin Immunol. 2020. PMID: 32673614 Free PMC article. No abstract available.
132 results