Article
Stimulator of Interferon Genes-Associated Vasculopathy With Onset in Infancy: A Mimic of Childhood Granulomatosis With Polyangiitis.
JAMA dermatology - 1 Aug 2015
Munoz Justine, Rodière Michel, Jeremiah Nadia, Rieux-Laucat Frédéric, Oojageer Anthony, Rice Gillian I, Rozenberg Flore, Crow Yanick J, Bessis Didier
Abstract excerpt
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...
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