BRIEF REPORT An Autoinflammatory Disease Due to Homozygous Deletion of the IL1RN Locus

被引：290

作者：

Reddy, Sreelatha ^{[1
]}

Jia, Shuang ^{[1
]}

Geoffrey, Rhonda ^{[1
]}

Lorier, Rachel ^{[1
]}

Suchi, Mariko

Broeckel, Ulrich ^{[1
]}

Hessner, Martin J. ^{[1
]}

Verbsky, James ^{[1
]}

机构：

[1] Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53201 USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2009年 / 360卷 / 23期

关键词：

INTERLEUKIN-1 RECEPTOR ANTAGONIST; MUCKLE-WELLS-SYNDROME; NF-KAPPA-B; CIAS1; MUTATIONS; MICE LACKING; INFLAMMATION; FAMILY; ARTHROPATHY; ACTIVATION; SPECTRUM;

D O I：

10.1056/NEJMoa0809568

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：2438 / 2444

页数：7

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