Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype.
Pediatr Rheumatol Online J
; 18(1): 37, 2020 May 12.
Article
em En
| MEDLINE
| ID: mdl-32398023
ABSTRACT
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 rheumatoid factor positive polyarticular juvenile idiopathic arthritis (JIA). Current and historical medical records were reviewed for clinical and laboratory information. Whole blood from cases 1 and 2, plus stored appendicectomy tissue from case 3, underwent DNA sequencing of the TMEM173 gene. Peripheral blood RNA was obtained from cases 1 and 2 for functional assessment of the TMEM173 mutation. DNA sequencing identified the same heterozygous TMEM173 mutation (c.463G > A; p.Val155Met) in all three cases, consistent with a diagnosis of the autosomal dominant condition SAVI. Functional assessment of this mutation identified a prominent interferon signature which was confirmed on repeat testing.CONCLUSIONS:
SAVI presented in this family as ILD with early onset juvenile rheumatoid arthritis. This condition should be considered in all rheumatoid arthritis patients with early-onset ILD and in all JIA patients with ILD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Artrite Juvenil
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Doenças Vasculares
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Doenças Pulmonares Intersticiais
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Doenças Hereditárias Autoinflamatórias
/
Proteínas de Membrana
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Female
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Humans
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Infant
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Newborn
Idioma:
En
Revista:
Pediatr Rheumatol Online J
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Reino Unido