| Title | An autoinflammatory disease due to homozygous deletion of the IL1RN locus. | | Author(s) | Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U, Hessner MJ, Verbsky J | | Institution | Department of Pediatrics, Medical College of Wisconsin and the Children's Research Institute, Milwaukee 53201, USA. | | Source | N Engl J Med 2009 Jun 4; 360(23):2438-44. | | MeSH | 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
| | 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. | | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
| | PubMed ID | 19494219 |
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