Article

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

Department of Pediatrics, Medical College of Wisconsin and the Children's Research Institute, Milwaukee 53201, USA.
New England Journal of Medicine (Impact Factor: 54.42). 07/2009; 360(23):2438-44. DOI: 10.1056/NEJMoa0809568
Source: PubMed

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.

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