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BCG-osis and tuberculosis in a child with chronic granulomatous disease

2007; Elsevier BV; Volume: 120; Issue: 1 Linguagem: Inglês

10.1016/j.jaci.2007.04.034

1097-6825

Jacinta Bustamante, Güzide Aksu, Guillaume Vogt, Ludovic de Beaucoudrey, Ferah Genel, Ariane Chapgier, Orchidée Filipe‐Santos, Jacqueline Feinberg, Jean‐François Emile, Necil Kütükçüler, Jean‐Laurent Casanova,

Neutrophil, Myeloperoxidase and Oxidative Mechanisms

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.