Chest
Selected ReportsSevere Pulmonary Fibrosis as the First Manifestation of Interferonopathy (TMEM173 Mutation)
Section snippets
Cases 1 and 2
A 12-year-old boy (case 1) was referred for evaluation of lung transplantation at 11 years, 1 year after his mother died of an undifferentiated interstitial lung disease (ILD) (case 2). He was the first child of unrelated parents of Algerian origin. There was no history of neonatal respiratory distress. He was first investigated at the age of 5 years for chronic cough with digital clubbing. He was noted to have failure to thrive since the age of 1 year. At 11 years, high-resolution CT (HRCT)
Discussion
We report three additional cases of the recently described autoinflammatory syndrome linked to a gain-of-function mutation of TMEM173.1 This gene encodes the STING adaptor protein, and mutations are responsible for type-I IFN overproduction through an intracellular JAK-kinase pathway.4 Mutations involved a coding region (exon 5) of TMEM173, and three genetic variants have been described so far, the most common being c.463G>A (p.Val155Met).1, 5 De novo and inherited mutations have been related,1
Acknowledgments
Financial/nonfinancial disclosures: None declared.
Role of sponsors: The sponsor had no role in the design of the study, the collection and analysis of the data, or the preparation of the manuscript.
Other contributions: The authors thank Aurore Coulomb, MD, and Hubert Ducou Le Pointe, MD, PhD, for their expertise in pathology and radiology.
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Cited by (0)
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.).