Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor β1 deficiency

被引：103

作者：

Caragol, I

Raspall, M

Fieschi, C

Feinberg, J

Larrosa, MN

Hernández, M

Figueras, C

Bertrán, M

Casanova, JL

Español, T

机构：

[1] Hosp Gen Valle Hebron, Immunol Unit, Barcelona, Spain

[2] Hosp Gen Valle Hebron, Microbiol Serv Unit, Barcelona, Spain

[3] Hosp Gen Valle Hebron, Pediat Infect Dis Unit, Barcelona, Spain

[4] Univ Paris, Necker Med Sch, Rene Descartes INSERM,U550, Lab Human Genet Infect Dis, Paris, France

[5] Hop Necker Enfants Malad, Pediat Hematol Immunol Unit, Paris, France

来源：

CLINICAL INFECTIOUS DISEASES | 2003年 / 37卷 / 02期

关键词：

D O I：

10.1086/375587

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

We describe 3 siblings with interleukin-12 receptor beta1 (IL-12Rbeta1) deficiency, a known genetic etiology of clinical disease caused by infection with poorly virulent mycobacteria, such as mycobacteria found in bacille Calmette-Guerin <LF>(BCG) vaccines and environmental nontuberculous mycobacteria (NTM). One child had disseminated tuberculosis, the second had extraintestinal salmonellosis and pulmonary tuberculosis, and the third remained asymptomatic. IL-12Rbeta1 deficiency should be considered as a diagnosis in patients with severe salmonellosis or tuberculosis, even if they do not have disease due to BCG or NTM.

引用

页码：302 / 306

页数：5

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