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An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009 Jun 04;360(23):2438-44

Date

06/06/2009

Pubmed ID

19494219

Pubmed Central ID

PMC2803085

DOI

10.1056/NEJMoa0809568

Scopus ID

2-s2.0-66649113371   275 Citations

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.

Author List

Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J

Authors

Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of Wisconsin
Martin J. Hessner PhD Professor in the Pediatrics department at Medical College of Wisconsin
Mariko Suchi MD, PhD Associate Professor in the Pathology department at Medical College of Wisconsin
James Verbsky MD, PhD Associate Professor in the Pediatrics department at Medical College of Wisconsin




MESH terms used to index this publication - Major topics in bold

Anti-Inflammatory Agents, Non-Steroidal
Autoimmune Diseases
Chromosomes, Human, Pair 2
DNA
Gene Deletion
Homozygote
Humans
Infant, Newborn
Inflammation
Interleukin 1 Receptor Antagonist Protein
Male
Oligonucleotide Array Sequence Analysis
Sequence Analysis, DNA
jenkins-FCD Prod-482 91ad8a360b6da540234915ea01ff80e38bfdb40a