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 (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.
Bustamante
Jacinta
J
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.
Aksu
Guzide
G
Vogt
Guillaume
G
de Beaucoudrey
Ludovic
L
Genel
Ferah
F
Chapgier
Ariane
A
Filipe-Santos
Orchidée
O
Feinberg
Jacqueline
J
Emile
Jean-François
JF
Kutukculer
Necil
N
Casanova
Jean-Laurent
JL
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
D001500:BCG Vaccine; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases