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Article

Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis.

The Journal of clinical investigation - 1 Dec 1997

Jouanguy E, Lamhamedi-Cherradi S, Altare F, Fondanèche M C, Tuerlinckx D, Blanche S, Emile J F, Gaillard J L, Schreiber R, Levin M, Fischer A, Hivroz C, Casanova J L

Abstract excerpt

Complete interferon-gamma receptor 1 (IFNgammaR1) deficiency has been identified previously as a cause of fatal bacillus Calmette-Guérin (BCG) infection with lepromatoid granulomas, and of disseminated nontuberculous mycobacterial (NTM) infection in children who had not been inoculated with BCG. We report here a kindred with partial IFNgammaR1 deficiency: one child afflicted by disseminated BCG infection with...

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Identifiers

PMID: 9389728
DOI: 10.1172/JCI119810
PMCID: PMC508468

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NTM
TNF

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