Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

doi:10.1002/art.40179

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Article

Musculoskeletal Disease in MDA5-Related Type I Interferonopathy: A Mendelian Mimic of Jaccoud's Arthropathy.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Oct 2017

de Carvalho Luciana Martins, Ngoumou Gonza, Park Ji Woo, Ehmke Nadja, Deigendesch Nikolaus, Kitabayashi Naoki, Melki Isabelle, Souza Flávio Falcäo L, Tzschach Andreas, Nogueira-Barbosa Marcello H, Ferriani Virgínia, Louzada-Junior Paulo, Marques Wilson, Lourenço Charles M, Horn Denise, Kallinich Tilmann, Stenzel Werner, Hur Sun, Rice Gillian I, Crow Yanick J

Abstract excerpt

OBJECTIVE: To define the molecular basis of a multisystem phenotype with progressive musculoskeletal disease of the hands and feet, including camptodactyly, subluxation, and tendon rupture, reminiscent of Jaccoud's arthropathy. METHODS: We identified 2 families segregating an autosomal-dominant phenotype encompassing musculoskeletal disease and variable additional features, including psoriasis, dental...

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Identifiers

PMID: 28605144
DOI: 10.1002/art.40179
PMCID: PMC6099183

Genes

IFIH1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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