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Chest. 2016 Sep;150(3):e65-71. doi: 10.1016/j.chest.2016.02.682.

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

Author information

1
Department of Pathology, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France; Inserm U1111, Lyon, France.
2
Pediatric Pulmonology Department, Assistance publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France; Inserm U938, Hôpital Saint-Antoine, Paris, France.
3
Department of Genetic, Assistance publique-Hôpitaux de Paris, Hôpital Bichat, Université Paris Diderot, Paris, France.
4
Pediatric Pulmonology Department, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France.
5
Institut Imagine, Hôpital Necker, Paris, France.
6
Inserm U1152, Université de Paris Diderot, Paris, France.
7
Inserm U1111, Lyon, France; Pediatric Rheumatology, Nephrology and Dermatology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Lyon, France.
8
Department of Pathology, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, Claude Bernard Lyon 1 University, Lyon, France.
9
Department of Pathology, Assistance publique-Hôpitaux de Marseille, Hôpital de la Timone, Marseille, France.
10
Pediatric Pulmonology Department, Assistance publique-Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France.
11
Pulmonology Department, CHU Nord, Assistance publique-Hôpitaux de Marseille, Université de la Méditerranée, Marseille, France.
12
Pediatric Pulmonology Department, Hôpital Femme-Mère-Enfant, Hospices civils de Lyon, UMR5558, Lyon, France. Electronic address: philippe.reix@chu-lyon.fr.

Abstract

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.

KEYWORDS:

TMEM173; autoinflammatory disease; pulmonary fibrosis; vasculopathy

PMID:
27613991
DOI:
10.1016/j.chest.2016.02.682
[Indexed for MEDLINE]

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