title: BCG-osis and tuberculosis in a child with chronic granulomatous disease.
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.
authors.affiliation: 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.
authors.forename: Jacinta
authors.initials: J
authors.lastname: Bustamante
authors.forename: Guzide
authors.initials: G
authors.lastname: Aksu
authors.forename: Guillaume
authors.initials: G
authors.lastname: Vogt
authors.forename: Ludovic
authors.initials: L
authors.lastname: de Beaucoudrey
authors.forename: Ferah
authors.initials: F
authors.lastname: Genel
authors.forename: Ariane
authors.initials: A
authors.lastname: Chapgier
authors.forename: Orchidée
authors.initials: O
authors.lastname: Filipe-Santos
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Feinberg
authors.forename: Jean-François
authors.initials: JF
authors.lastname: Emile
authors.forename: Necil
authors.initials: N
authors.lastname: Kutukculer
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D001500:BCG Vaccine / Q000009:adverse effects*; D001483:Base Sequence; D002648:Child; D003937:Diagnosis, Differential; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D008969:Molecular Sequence Data; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics; D014376:Tuberculosis / Q000175:diagnosis* / Q000209:etiology
chemical_list: D001500:BCG Vaccine; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases