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
收藏
页码：721 / 722
页数：2
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