Publications – FHU Infire

2026

Premature hair graying in patients with pulmonary fibrosis and relatives is suggestive of pathogenic variants in telomere related genes

Raphael Borie , Arthur Mageau , Cécile Guérin , Morgane Weiss , Mathilde Le Brun , Bruno Crestani , Quentin Philippot , Flore Sicre de Fontbrune , Aurélie Plessier , Diane Bouvry , Andrew Courtwright , John Mackintosh , Emmanuelle Bourrat , Clément R Massonnaud , Ibrahima Ba , Caroline Kannengiesser

European Respiratory Journal

2026

Adult male patients with DKC1 mutations present early-onset pulmonary fibrosis and severe prognosis

Ophélie Evrard, Quentin Philippot, Caroline Kannengiesser, Marie Pierre Debray, Alice Guyard, Antonin Fattori, Armelle Schuller, Hilario Nunes, David Montani, Vincent Bours, Vincent Cottin, Julie Traclet, Amira Benattia, Emilie Berthoux, Adrien Daniel, Xu Yan-Min, Elodie Lainey, Julien Saussereau, Malika Chelbi Viallon, Claire Oudin, Héléne Morel, Bruno Crestani , Raphaël Borie , Ibrahima Ba

ERJ Open Research

2026

De novo SRRM2 variants in neuroendocrine cell hyperplasia of infancy and persistent tachypnoea of infancy.

Louvrier C, Soreze Y, Mesinele J, de Becdelièvre A, Desroziers T, Nau V, Dastot-Le Moal F, Levergeois R, Legendre M, Giurgea I, Konyukh M, Abou Taam R, Becourt A, Cosson L, Gibertini I, Borie R, Rodriguez D, Troadec C, Coulomb L'Herminé A, Dubus JC, Nathan N

Eur Respir J