| Literature DB >> 29382801 |
Jonathan R Brestoff1, Alexandre T Vessoni2, Kirsten A Brenner2, Geoffrey L Uy3, John F DiPersio3, Morey Blinder2, Chad A Witt4, Derek E Byers4, Ramsey R Hachem4, Elbert P Truclock4, Dayna S Early5, Milan J Anadkat6, Amy Musiek6, Cylen Javidan-Nejad7, Dennis M Balfe7, Ilana S Rosman6,8, Chang Liu1, Lingxin Zhang1,8, George J Despotis1,9, Marianna B Ruzinova8, Jennifer K Sehn8, Ina Amarillo1, Jonathan W Heusel1, Wojcieh Swat1, Brian S Kim6,9,10,11, Lukas D Wartman3, Roger D Yusen4,12,13, Luis F Z Batista2,14,15.
Abstract
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. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.Entities:
Keywords: airway epithelium; idiopathic pulmonary fibrosis
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Year: 2018 PMID： 29382801 PMCID： PMC5972828 DOI： 10.1136/thoraxjnl-2017-211121
Source DB: PubMed Journal: Thorax ISSN： 0040-6376 Impact factor: 9.139