Acute graft-versus-host disease following lung transplantation in a patient with a novel TERT mutation

作者：Brestoff Jonathan R; Vessoni Alexandre T; Brenner Kirsten A; Uy Geoffrey L; DiPersio John F; Blinder Morey; Witt Chad A; Byers Derek E; Hachem Ramsey R; Truclock Elbert P; Early Dayna S; Anadkat Milan J; Musiek Amy; Javidan Nejad Cylen; Balfe Dennis M; Rosman Ilana S; Liu Chang; Zhang Lingxin; Despotis George J; Ruzinova Marianna B; Sehn Jennifer K; Amarillo Ina; Heusel Jonathan W; Swat Wojcieh; Kim Brian S; Wartman Lukas D; Yusen Roger D^*

来源：Thorax, 2018, 73(5): 489-492.

DOI：10.1136/thoraxjnl-2017-211121

Familial pulmonary fibrosis is associated with loss-of-function mutations in telomerase reverse transcriptase (TERT) and short telomeres. Interstitial lung diseases have become the leading indication for lung transplantation in the USA, and recent data indicate that pathogenic mutations in telomerase may cause unfavourable outcomes following lung transplantation. Although a rare occurrence, solid organ transplant recipients who develop acute graft-versus-host disease (GVHD) have very poor survival. This case report describes the detection of a novel mutation in TERT in a patient who had lung transplantation for familial pulmonary fibrosis and died from complications of acute GVHD.

• 出版日期2018-5