Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

BACKGROUND: STING-associated vasculopathy with onset in infancy (SAVI) is a type 1 interferonopathy manifesting as a pulmonary and vascular syndrome resulting from gain-of-function mutations in TMEM173, the gene encoding STING. Familial reports in the literature are sparse. CASE PRESENTATION: We rep...

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Detalles Bibliográficos
Autores principales: Clarke, S. L. N., Robertson, L., Rice, G. I., Seabra, L., Hilliard, T. N., Crow, Y. J., Ramanan, A. V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7218611/
https://www.ncbi.nlm.nih.gov/pubmed/32398023
http://dx.doi.org/10.1186/s12969-020-00425-w

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