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Thorax. 2018 May;73(5):489-492. doi: 10.1136/thoraxjnl-2017-211121. Epub 2018 Jan 30.

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

Author information

1
Division of Laboratory and Genomic Medicine, Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri, USA.
2
Division of Hematology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
3
Division of Oncology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
4
Division of Pulmonary and Critical Care Medicine, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
5
Division of Gastroenterology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
6
Division of Dermatology, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
7
Mallinckrodt Institute of Radiology, Washington University School of Medicine, Saint Louis, Missouri, USA.
8
Division of Anatomic and Molecular Pathology, Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri, USA.
9
Department of Anesthesiology, Washington University School of Medicine, Saint Louis, Missouri, USA.
10
Department of Pathology and Immunology, Washington University School of Medicine, Saint Louis, Missouri, USA.
11
Center for the Study of Itch, Washington University School of Medicine, Saint Louis, Missouri, USA.
12
Division of General Medical Sciences, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
13
Division of General Medical Education, Department of Medicine, Washington University School of Medicine, Saint Louis, Missouri, USA.
14
Department of Developmental Biology, Washington University in Saint Louis, Saint Louis, Missouri, USA.
15
Center of Regenerative Medicine, Washington University in Saint Louis, Saint Louis, Missouri, USA.
#
Contributed equally

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.

KEYWORDS:

airway epithelium; idiopathic pulmonary fibrosis

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