An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009 Jun 04;360(23):2438-44
Date
06/06/2009Pubmed ID
19494219Pubmed Central ID
PMC2803085DOI
10.1056/NEJMoa0809568Scopus ID
2-s2.0-66649113371 (requires institutional sign-in at Scopus site) 342 CitationsAbstract
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 JAuthors
Ulrich Broeckel MD Chief, Center Associate Director, Professor in the Pediatrics department at Medical College of WisconsinMartin 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 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-SteroidalAutoimmune 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
