Adult male patients with <i>DKC1</i> mutations present early-onset pulmonary fibrosis and severe prognosis
Compared with patients with pulmonary fibrosis associated with other TRG variants, those with pulmonary fibrosis associated with X-linked recessive <i>DKC1</i> variants are younger and have a shorter survival time. Early identification and referral of these patients to an expert transplantation centre should be considered.
Authors
- Claire Oudin
- Magalie Viallon (ORCID: https://orcid.org/0000-0001-9118-0438)
- Élodie Lainey (ORCID: https://orcid.org/0000-0002-0224-4338)
- H Morel (ORCID: https://orcid.org/0000-0001-8539-4966)
- Vincent Cottin (ORCID: https://orcid.org/0000-0002-5591-0955)
- Adrien Daniel
- Quentin Philippot (ORCID: https://orcid.org/0000-0003-3429-9605)
- Ibrahima Ba (ORCID: https://orcid.org/0000-0001-5338-3883)
- Julien Saussereau
- Hilario Nunès (ORCID: https://orcid.org/0000-0003-2896-7347)
- Julie Traclet
- Antonin Fattori (ORCID: https://orcid.org/0000-0002-0249-4935)
- Caroline Kannengiesser (ORCID: https://orcid.org/0000-0003-2155-9383)
- Bruno Crestani (ORCID: https://orcid.org/0000-0002-2961-3455)
- Alice Guyard (ORCID: https://orcid.org/0000-0002-2406-3079)
- David Montani (ORCID: https://orcid.org/0000-0002-9358-6922)
- Vincent Bours (ORCID: https://orcid.org/0000-0002-5934-6247)
- Raphaël Borie (ORCID: https://orcid.org/0000-0002-9906-0024)
- Ophélie Evrard (ORCID: https://orcid.org/0009-0004-9782-4387)
- Marie‐Pierre Debray (ORCID: https://orcid.org/0000-0003-2109-5662)
- Yanmin Xu
- Amira Benattia
- Armelle Schuller
- Emilie Bertoux
Institutions
- Université Claude Bernard Lyon 1 (FR)
- Inserm (FR)
- University of Liège (BE)
- Université Paris Cité (FR)
- Université Paris-Saclay (FR)
- Sorbonne Université (FR)
- Université Sorbonne Paris Nord (FR)
- Sorbonne Paris Cité (FR)
- Institute Mutualiste Montsouris (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- Hospices Civils de Lyon (FR)
- Hypertension pulmonaire : physiopathologie et innovation thérapeutique (FR)
- Hôpital Saint Joseph (FR)
- Hôpital Robert-Debré (FR)
- Hôpital Avicenne (FR)
- Centre de Recherche sur l'Inflammation (FR)
- Centre Hospitalier Universitaire de Liège (BE)
- Hôpital Louis Pradel (FR)
- Hôpital Saint-Louis (FR)
- Centre hospitalier universitaire d'Orléans (FR)
- Hôpital Bichat-Claude-Bernard (FR)
- Hôpitaux Universitaires de Strasbourg (FR)
- Institut des Sciences Humaines et Sociales (FR)
- Centre Hospitalier Saint-Joseph Saint-Luc (FR)
- Hôpital d'Hautepierre (FR)
- Bicêtre Hospital (FR)
- EnServe Group (United Kingdom) (GB)
- Université de Picardie Jules Verne (FR)
Publication Details
- Journal
- ERJ Open Research
- Published
- 2025-12-04
- DOI
- https://doi.org/10.1183/23120541.00417-2025
- Primary Topic
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Type
- article
- Field-Weighted Citation Impact
- 0.00