Raphael Borie, Caroline Kannengiesser, Sandrine Hirschi, Jérôme Le Pavec, Hervé Mal, Emmanuel Bergot, Stéphane Jouneau, Jean-Marc Naccache, Patrick Revy, David Boutboul, Régis Peffault de la Tour, Lidwine Wemeau-Stervinou, Francois Philit, Jean-François Cordier, Gabriel Thabut, Bruno Crestani, Vincent Cottin
BACKGROUND: Mutations in the telomerase complex (TERT and TR) are associated with pulmonary fibrosis and frequent hematologic manifestations. The aim of this study was to characterize the prognosis of lung transplantation in patients with TERT or TR mutations. METHODS: Patients with documented TERT or TR mutations who received a lung transplant between 2007 and 2013 in France were identified via an exhaustive search of the lung transplantation network, one expert genetic laboratory, and the clinical research network on rare pulmonary diseases...
April 2015: Journal of Heart and Lung Transplantation