期刊
NEW ENGLAND JOURNAL OF MEDICINE
卷 360, 期 23, 页码 2438-2444出版社
MASSACHUSETTS MEDICAL SOC
DOI: 10.1056/NEJMoa0809568
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资金
- National Institute of Allergy and Infectious Diseases [RO1AI078713, U19AI062627]
- Research and Education Foundation of the American College of Rheumatology
- Children's Hospital of Wisconsin Foundation
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.
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