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Reviews and feature articles: BCG-osis and tuberculosis in a child with chronic granulomatous disease

A few known primary immunodeficiencies confer predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines (regional disease, known as BCG-itis, or disseminated disease, known as BCG-osis), or more virulent mycobacteria, such as Mycobacterium tuberculosis (pulmonar...

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Published in:Journal of allergy and clinical immunology 2007-07, Vol.120 (1), p.32-38
Main Authors: Bustamante, Jacinta, Aksu, Guzide, Vogt, Guillaume, de Beaucoudrey, Ludovic, Genel, Ferah, Chapgier, Ariane, Filipe-Santos, Orchidee, Feinberg, Jacqueline, Emile, Jean-Francois, Kutukculer, Necil, Casanova, Jean-Laurent
Format: Article
Language:English
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Summary:A few known primary immunodeficiencies confer predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG vaccines (regional disease, known as BCG-itis, or disseminated disease, known as BCG-osis), or more virulent mycobacteria, such as Mycobacterium tuberculosis (pulmonary and disseminated tuberculosis). We investigated the clinical and genetic features of a 12-year-old boy with both recurrent BCG-osis and disseminated tuberculosis. The patient's phagocytic cells produced no O2?. A hemizygous splice mutation was found in intron 5 of CYBB, leading to a diagnosis of X-linked chronic granulomatous disease. Chronic granulomatous disease should be suspected in all children with BCG-osis, even in the absence of nonmycobacterial infectious diseases, and in selected children with recurrent BCG-itis or severe tuberculosis.
ISSN:0091-6749
DOI:10.1016/j.jaci.2007.04.034