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

Cécile Picard, MD; Guillaume Thouvenin, MD; Caroline Kannengiesser, MD, PhD; Jean-Christophe Dubus, MD, PhD; Nadia Jeremiah, PhD; Frédéric Rieux-Laucat, PhD; Bruno Crestani, MD, PhD; Alexandre Belot, MD, PhD; Françoise Thivolet-Béjui, MD, PhD; Véronique Secq, MD, PhD; Christelle Ménard; Martine Reynaud-Gaubert, MD, PhD; Philippe Reix, MD, PhD
Author and Funding Information

Drs Picard and Thouvenin contributed equally to this manuscript.

FUNDING/SUPPORT: This work (exome sequencing) was supported by a grant “FPI-SPC” from Université Sorbonne ParisCité (B. C.) and the Chancellerie des Universités de Paris (legs Poix; C. K.).

aDepartment of Pathology, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France

bInserm U1111, Lyon, France

cPediatric Rheumatology, Nephrology and Dermatology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Lyon, France

dPediatric Pulmonology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, UMR5558, Lyon, France

ePediatric Pulmonology Department, Assistance publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France

fInserm U938, Hôpital Saint-Antoine, Paris, France

gDepartment of Genetic, Assistance publique-Hôpitaux de Paris, Hôpital Bichat, Université Paris Diderot, Paris, France

hInstitut Imagine, Hôpital Necker, Paris, France

iInserm U1152, Université de Paris Diderot, Paris, France

jPediatric Pulmonology Department, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France

kDepartment of Pathology, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France

lPulmonology Department, CHU Nord, Assistance publique-Hôpitaux de Marseille, Université de la Méditerranée, Marseille, France

CORRESPONDENCE TO: Philippe Reix, MD, PhD, Hôpital Femme Mère Enfant, 59 boulevard Pinel, 69677 BRON, Lyon, France


Copyright 2016, American College of Chest Physicians. All Rights Reserved.


Chest. 2016;150(3):e65-e71. doi:10.1016/j.chest.2016.02.682
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We report three cases of pulmonary disease suggesting fibrosis in two familial and one sporadic case. Pulmonary symptoms were associated with various clinical features of systemic inflammation and vasculitis involving the skin, and appeared at different ages. A strong interferon signature was found in all three cases. Disease was not responsive to corticosteroids, and lung transplantation was considered for all three subjects at an early age. One of them underwent double-lung transplantation, but she immediately experienced a primary graft dysfunction and died soon after. Recognized causes of familial interstitial lung disease were all excluded. All three subjects had a mutation in the previously described autoinflammatory disease called SAVI (stimulator of interferon genes [STING]-associated vasculopathy with onset in infancy). These cases emphasize the need to consider this possibility in children and young adults with lung fibrosis after common causes have been ruled out.

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