Autoimmune phenotype with type I interferon signature in two brothers with ADA2 deficiency carrying a novel CECR1 mutation

BACKGROUND: Loss-of-function CECR1 mutations cause polyarteritis nodosa (PAN) with childhood onset, an autoinflammatory disorder without significant signs of autoimmunity. Herein we describe the unusual presentation of an autoimmune phenotype with constitutive type I interferon activation in sibling...

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Publicado en:Pediatr Rheumatol Online J
Autores principales: Skrabl-Baumgartner, Andrea, Plecko, Barbara, Schmidt, Wolfgang M., König, Nadja, Hershfield, Michael, Gruber-Sedlmayr, Ursula, Lee-Kirsch, Min Ae
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5568374/
https://ncbi.nlm.nih.gov/pubmed/28830446
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12969-017-0193-x
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