An Autoinflammatory Disease Due to Homozygous Deletion of theIL1RNLocus
Top Cited Papers
- 4 June 2009
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 360 (23), 2438-2444
- https://doi.org/10.1056/nejmoa0809568
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.This publication has 22 references indexed in Scilit:
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