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Article

New variant in the IL1RN-gene (DIRA) associated with late-onset, CRMO-like presentation.

Rheumatology (Oxford, England) - 1 Nov 2020

Kuemmerle-Deschner Jasmin B, Welzel Tatjana, Hoertnagel Konstanze, Tsiflikas Ilias, Hospach Anton, Liu Xiao, Schlipf Susanne, Hansmann Sandra, Samba Samuel D, Griesinger Andreas, Benseler Susanne M, Weber Alexander N

Abstract excerpt

OBJECTIVE: To report a chronic recurrent multifocal osteomyelitis (CRMO)-like clinical phenotype with multisystem inflammation associated with a novel gene variant in the spectrum of IL-1-mediated diseases. METHODS: A 3-year-old boy presented with recurrent episodes of fever, serositis, pancreatitis and high inflammatory markers with onset at age 13 months. At age 3 years, he started limping. Imaging revealed...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32259833
DOI: 10.1093/rheumatology/keaa119

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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