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JAMA Dermatol. 2015 Aug;151(8):872-7. doi: 10.1001/jamadermatol.2015.0251.

Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.

Author information

1
Department of Dermatology, St Eloi Hospital, CHRU Montpellier, Montpellier, France2University of Montpellier I, Montpellier, France.
2
University of Montpellier I, Montpellier, France3Department of Pediatrics, Arnaud de Villeneuve Hospital, CHRU Montpellier, Montpellier, France.
3
Institut Imagine, Necker Hospital for Sick Children, Paris, France5Paris Descartes University, Paris, France6INSERM UMR 1163, Paris, France.
4
Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, United Kingdom.
5
Paris Descartes University, Paris, France8Department of Virology, Cochin Hospital AP-HP, Paris, France.
6
Institut Imagine, Necker Hospital for Sick Children, Paris, France5Paris Descartes University, Paris, France6INSERM UMR 1163, Paris, France7Manchester Centre for Genomic Medicine, Institute of Human Development Faculty of Medical and Human Sciences, Manch.
7
Department of Dermatology, St Eloi Hospital, CHRU Montpellier, Montpellier, France2University of Montpellier I, Montpellier, France9INSERM U1058, Montpellier, France.

Abstract

IMPORTANCE:

The type I interferonopathies comprise a recently recognized group of mendelian diseases characterized by an upregulation of type I interferon signaling. These monogenic phenotypes include classic Aicardi-Goutières syndrome and syndromic forms of systemic lupus erythematosus, including familial chilblain lupus and spondyloenchondrodysplasia. Dermatologic features provide a major diagnostic clue to this disease grouping, as exemplified by the recently described stimulator of interferon genes-associated vasculopathy with onset in infancy (SAVI) caused by gain-of-function mutations in TMEM173.

OBSERVATIONS:

We describe a male child who, from the age of 2 months, had significant cutaneous disease that manifested as red violaceous plaques of the cheeks, nose, ears, fingers, and toes that progressed to gangrenous necrosis. In addition to his severe cutaneous vasculopathy, he experienced recurrent fevers, interstitial lung disease, and failure to thrive. His clinical syndrome was refractory to multiple immunosuppressive therapies. Evidence of marked upregulation of type I interferon signaling was observed in peripheral blood, and genetic testing identified a de novo germline mutation in TMEM173, confirming a diagnosis of SAVI 7 years after the onset of his disease.

CONCLUSIONS AND RELEVANCE:

This observational report describes a new case of SAVI, a recently defined monogenic inflammatory phenotype, that exemplifies an emerging group of disorders related to primary upregulation of type I interferon signaling.

PMID:
25992765
DOI:
10.1001/jamadermatol.2015.0251
[Indexed for MEDLINE]

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