Article
Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.
Annals of the rheumatic diseases - 1 Apr 2018
Giannelou Angeliki, Wang Hongying, Zhou Qing, Park Yong Hwan, Abu-Asab Mones S, Ylaya Kris, Stone Deborah L, Sediva Anna, Sleiman Rola, Sramkova Lucie, Bhatla Deepika, Serti Elisavet, Tsai Wanxia Li, Yang Dan, Bishop Kevin, Carrington Blake, Pei Wuhong, Deuitch Natalie, Brooks Stephen, Edwan Jehad H, Joshi Sarita, Prader Seraina, Kaiser Daniela, Owen William C, Sonbul Abdullah Al, Zhang Yu, Niemela Julie E, Burgess Shawn M, Boehm Manfred, Rehermann Barbara, Chae JaeJin, Quezado Martha M, Ombrello Amanda K, Buckley Rebecca H, Grom Alexi A, Remmers Elaine F, Pachlopnik Jana M, Su Helen C, Gutierrez-Cruz Gustavo, Hewitt Stephen M, Sood Raman, Risma Kimberly, Calvo Katherine R, Rosenzweig Sergio D, Gadina Massimo, Hafner Markus, Sun Hong-Wei, Kastner Daniel L, Aksentijevich Ivona
Abstract excerpt
OBJECTIVES: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in TRNT1, a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype. METHODS: We studied nine patients with biallelic mutations in TRNT1 and the syndrome of congenital sideroblastic anaemia...
Topics
Join the communities discussing this publication.