Acute graft-versus-host disease following lung transplantation in a patient with a novel mutation.
| Autor: | 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., Chang Liu, Lingxin Zhang, Despotis, George J., Ruzinova, Marianna B. |
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| Předmět: |
PULMONARY fibrosis
TELOMERASE reverse transcriptase DNA mutational analysis GRAFT versus host disease LUNG transplantation GENETICS COMPARATIVE studies DISEASE complications RESEARCH methodology MEDICAL cooperation GENETIC mutation RESEARCH RESEARCH funding TRANSFERASES EVALUATION research TREATMENT effectiveness ACUTE diseases |
| Zdroj: | Thorax; May2018, Vol. 73 Issue 5, p489-492, 4p |
| Abstrakt: | 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. [ABSTRACT FROM AUTHOR] |
| Databáze: | Complementary Index |
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