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Article

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

Pediatric rheumatology online journal - 12 May 2020

Clarke S L N, Robertson L, Rice G I, Seabra L, Hilliard T N, Crow Y J, Ramanan A V

Abstract excerpt

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 report a case series of SAVI in a three generation kindred, with a phenotype of interstitial lung disease (ILD) and...

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Source

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Identifiers

PMID: 32398023
DOI: 10.1186/s12969-020-00425-w
PMCID: PMC7218611

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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