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

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...

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Pubblicato in:J Med Case Rep
Autori principali: Ulusoy, Ezgi, Karaca, Neslihan Edeer, El-Shanti, Hatem, Kilicoglu, Erhan, Aksu, Guzide, Kutukculer, Necil
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC4495801/
https://ncbi.nlm.nih.gov/pubmed/26100510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13256-015-0618-4
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