Severe Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)

Chest - Tập 150 - Trang e65-e71 - 2016
Cécile Picard1,2, Guillaume Thouvenin3,4, Caroline Kannengiesser5, Jean-Christophe Dubus6, Nadia Jeremiah7, Frédéric Rieux-Laucat7, Bruno Crestani8, Alexandre Belot2,9, Françoise Thivolet-Béjui1, Véronique Secq10, Christelle Ménard3, Martine Reynaud-Gaubert11, Philippe Reix12
1Department of Pathology, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France
2INSERM, U1111, Lyon, France
3Pediatric Pulmonology Department, Assistance publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France
4Inserm U938, Hôpital Saint-Antoine, Paris, France
5Department of Genetic, Assistance publique-Hôpitaux de Paris, Hôpital Bichat, Université Paris Diderot, Paris, France
6Pediatric Pulmonology Department, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France
7Institut Imagine, Hôpital Necker, Paris, France
8Inserm U1152, Université de Paris Diderot, Paris, France
9Pediatric Rheumatology, Nephrology and Dermatology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Lyon, France
10Department of Pathology, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France
11Pulmonology Department, CHU Nord, Assistance publique-Hôpitaux de Marseille, Université de la Méditerranée, Marseille, France
12Pediatric Pulmonology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, UMR5558, Lyon, France

Tài liệu tham khảo

Liu, 2014, Activated STING in a vascular and pulmonary syndrome, N Engl J Med, 371, 507, 10.1056/NEJMoa1312625 Crow, 2014, STING-associated vasculopathy with onset in infancy—a new interferonopathy, N Engl J Med, 371, 568, 10.1056/NEJMe1407246 Rice, 2013, Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study, Lancet Neurol, 12, 1159, 10.1016/S1474-4422(13)70258-8 Picard, 2015, Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases, Autoimmun Rev, 14, 1147, 10.1016/j.autrev.2015.08.002 Jeremiah, 2014, Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations, J Clin Invest, 124, 5516, 10.1172/JCI79100 Devine, 2012, Genetic interstitial lung disease, Clin Chest Med, 33, 95, 10.1016/j.ccm.2011.11.001 Silhan, 2014, Lung transplantation in telomerase mutation carriers with pulmonary fibrosis, Eur Respir J, 44, 178, 10.1183/09031936.00060014 Borie, 2015, Severe hematologic complications after lung transplantation in patients with telomerase complex mutations, J Heart Lung Transplant, 34, 538, 10.1016/j.healun.2014.11.010