Chronic granulomatous disease of childhood.
Two boys and one girl suffering from recurrent severe bacterial infections were investigated. All 3 exhibited normal cellular and humoral immunity, normal neutrophil phagocytic ability, and defective neutrophil bacterial capacity. The clinical features and laboratory findings in these patients are diagnostic of chronic granulomatous disease. A sex-linked inheritance pattern was confirmed in 1 patient by the demonstration of a heterozygous carrier state in the mother.
D002675:Child, Preschool; D005260:Female; D006105:Granulomatous Disease, Chronic / Q000235:genetics / Q000276:immunology*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009504:Neutrophils / Q000276:immunology*; D010585:Phagocyte Bactericidal Dysfunction / Q000276:immunology*; D010587:Phagocytosis; D012730:Sex Chromosomes; D013211:Staphylococcus aureus