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Article

Interleukin-1 receptor antagonist deficiency with a novel mutation; late onset and successful treatment with canakinumab: a case report.

Journal of medical case reports - 23 Jun 2015

Ulusoy Ezgi, Karaca Neslihan Edeer, El-Shanti Hatem, Kilicoglu Erhan, Aksu Guzide, Kutukculer Necil

Abstract excerpt

INTRODUCTION: Interleukin-1 receptor antagonist deficiency is a rare autoinflammatory disease involving neonatal onset of pustulosis, periostitis, and sterile osteomyelitis. The underlying genetic abnormality involves a recessive mutation in IL1RN, which encodes interleukin-1 receptor antagonist. In this case report, we describe a case of a 12-year-old Turkish girl who initially was presented at 1 year of age,...

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Identifiers

PMID: 26100510
DOI: 10.1186/s13256-015-0618-4
PMCID: PMC4495801

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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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