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Article

The first reported case of compound heterozygous IL1RN mutations causing deficiency of the interleukin-1 receptor antagonist.

Arthritis and rheumatism - 1 Dec 2011

Stenerson Matthew, Dufendach Kevin, Aksentijevich Ivona, Brady Jillian, Austin Jared, Reed Ann M

Abstract excerpt

Interleukin-1 receptor antagonist (IL-1Ra) deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis. We report the case of a 2-week-old male who presented with a swollen, erythematous left index finger and elevated serum markers of inflammation. He later developed cyclical fevers, diffuse pustular skin lesions, and thrombus formation. After not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21792839
DOI: 10.1002/art.30565

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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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