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.
- idiopathic pulmonary fibrosis
- airway epithelium
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JRB and ATV contributed equally.
Contributors JRB, ATV and KAB performed experiments. JRB, ATV, RDY and LFZB wrote the manuscript. All other authors were involved in the clinical management of the patient. Correspondence should be addressed to RDY and LFZB.
Funding JRB is supported by the Physician Scientist Training Program at the Washington University School of Medicine and funds from the Department of Pathology and Immunology, Washington University School of Medicine. ATV is supported by the Philip W Majerus Fellowship Award from the Division of Hematology, Washington University School of Medicine. KAB is supported by the National Fellowship Foundation. CL is supported by the Washington University Hematology Scholars K12 award (K12-HL087107-07). LFZB is supported by the NHLBI (4R00HL114732-03 and 1R01HL137793-01) and grants from the Department of Defense (BM160054), the V Foundation for Cancer Research, the Edward Mallinckrodt Jr Foundation, the American Federation for Aging Research, the Longer Life Foundation and the Center for Regenerative Medicine at Washington University.
Competing interests None declared.
Ethics approval Washington University Human Research Protection Office (HRPO).
Provenance and peer review Not commissioned; externally peer reviewed.
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