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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...
Autores principales: | Ulusoy, Ezgi, Karaca, Neslihan Edeer, El-Shanti, Hatem, Kilicoglu, Erhan, Aksu, Guzide, Kutukculer, Necil |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4495801/ https://www.ncbi.nlm.nih.gov/pubmed/26100510 http://dx.doi.org/10.1186/s13256-015-0618-4 |
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