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J Allergy Clin Immunol. 2007 Jul;120(1):32-8. Epub 2007 Jun 4.

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

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1
Laboratory of Human Genetics of Infectious Diseases, Institut National de la Santé et de la Recherche Médicale U550; University Paris René Descartes, Necker Medical School, Paris, France.

Abstract

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 O(2)(-). 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.

PMID:
17544093
DOI:
10.1016/j.jaci.2007.04.034
[Indexed for MEDLINE]
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