Disseminated Mycobacterium avium Infection in a Patient with a Novel Mutation in the Interleukin-12 Receptor-β1 Chain

被引：14

作者：

Haerynck, Filomeen ^{[1
]}

Holland, Steve M. ^{[2
]}

Rosenzweig, Sergio D. ^{[3
]}

Casanova, Jean-Laurent ^{[4
]}

Schelstraete, Petra ^{[1
]}

De Baets, Frans ^{[1
]}

机构：

[1] Ghent Univ Hosp, Dept Pediat Pulmonol & Immunol, B-9000 Ghent, Belgium

[2] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20892 USA

[3] Hosp Nacl Pediat, Serv Immunol, Buenos Aires, DF, Argentina

[4] Univ Paris 05, Lab Human Genet Infect Dis, INSERM, U550, Paris, France

来源：

JOURNAL OF PEDIATRICS | 2008年 / 153卷 / 05期

关键词：

D O I：

10.1016/j.jpeds.2008.05.050

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

A girl with relapsing cervical lymphadenopathy due to Mycobacterium avium subsequently developed abdominal endenopathy and intestinal inflammation. 1 known (c.1623_1624delGCinsTT) and 1 novel mutation (c.65_68delCTGC of exons2) of the Interleukin-12 Receptor-beta 1 (IL-12R beta 1) gene was detected. Unlike reports of a more favorable outcome in these patients, our patient died of severe intestinal involvement. (J Pediatr 2008;153:721-2)

引用

页码：721 / 722

页数：2

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