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N Engl J Med. 2009 Jun 4;360(23):2438-44. doi: 10.1056/NEJMoa0809568.

An autoinflammatory disease due to homozygous deletion of the IL1RN locus.

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  • 1Department of Pediatrics, Medical College of Wisconsin and the Children's Research Institute, Milwaukee 53201, USA.

Abstract

We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insufficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, including the gene encoding the interleukin-1-receptor antagonist (IL1RN). Mononuclear cells, obtained from the patient and cultured, produced large amounts of inflammatory cytokines, with increasing amounts secreted after stimulation with lipopolysaccharide. A similar increase was not observed in peripheral-blood mononuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.

2009 Massachusetts Medical Society

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PMID:
19494219
[PubMed - indexed for MEDLINE]
PMCID:
PMC2803085
Free PMC Article
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