Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency | Zendy

Isabel Caragol | Zendy; Miquel RaspallChaure | Zendy; Claire Fieschi | Zendy; J. Feinberg | Zendy; Nieves Larrosa | Zendy; M. Hernández | Zendy; Concepció Figueras | Zendy; J. M. Bertran | Zendy; JeanLaurent Casanova | Zendy; Teresa Español | Zendy

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Clinical Tuberculosis in 2 of 3 Siblings with Interleukin-12 Receptor 1 Deficiency

Author(s) -

Isabel Caragol,

Miquel RaspallChaure,

Claire Fieschi,

J. Feinberg,

Nieves Larrosa,

M. Hernández,

Concepció Figueras,

J. M. Bertran,

JeanLaurent Casanova,

Teresa Español

Publication year - 2003

Publication title -

clinical infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.44

H-Index - 336

eISSN - 1537-6591

pISSN - 1058-4838

DOI - 10.1086/375587

Subject(s) - medicine , tuberculosis , nontuberculous mycobacteria , immunology , mycobacterium tuberculosis , asymptomatic , etiology , disease , virulence , bcg vaccine , mycobacterium bovis , mycobacterium tuberculosis complex , mycobacterium , pathology , biology , biochemistry , gene

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-Guérin (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.

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