Academic
Publications
An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus

An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus,Sreelatha Reddy,Shuang Jia,Rhonda Geoffrey,Rachel Lorier,Mariko Suchi,Ulrich

An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus   (Citations: 20)
BibTex | RIS | RefWorks Download
Summary We describe a patient with an autoinflammatory disease in which the main clinical features are pustular rash, marked osteopenia, lytic bone lesions, respiratory insuf- ficiency, and thrombosis. Genetic studies revealed a 175-kb homozygous deletion at chromosome 2q13, which encompasses several interleukin-1 family members, in- cluding the gene encoding the interleukin-1-receptor antagonist (IL1RN). Mono- nuclear 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 mono- nuclear cells from a patient with neonatal-onset multisystem inflammatory disorder (NOMID). Treatment with anakinra completely resolved the symptoms and lesions.
Published in 2010.
Cumulative Annual
View Publication
The following links allow you to view full publications. These links are maintained by other sources not affiliated with Microsoft Academic Search.
Sort by: