title: Chronic granulomatous disease--a report in two Malay families.
abstract: Chronic granulomatous disease (CGD) is a very rare disease whose defect lies in an abnormal intracellular killing resulting in recurrent abscesses, lymphadenitis and granuloma formation. We describe 2 Malay male infants with CGD whom we believe to be the first report of this disorder in Malays. Both children presented with recurrent abscesses, pneumoniae and hepatosplenomegaly; lymphadenopathy was also present in one of the patients. The organisms isolated were catalase positive bacteria. Both neutrophil chemiluminescence (against fungal and bacterial antigens, phorbol myristate acetate) and intracellular killing assays were severely depressed. Recognition of CGD is important as great strides have been made in the treatment of this disease which include gamma interferon therapy besides the conventional prophylactic antibacterial therapy.
authors.affiliation: Department of Paediatrics, Faculty of Medicine, Universiti Kebangsaan Malaysia, Kuala Lumpur.
authors.forename: L
authors.initials: L
authors.lastname: Mohd Noh
authors.forename: R M
authors.initials: RM
authors.lastname: Noah
authors.forename: L L
authors.initials: LL
authors.lastname: Wu
authors.forename: B A
authors.initials: BA
authors.lastname: Nasuruddin
authors.forename: E
authors.initials: E
authors.lastname: Junaidah
authors.forename: C P
authors.initials: CP
authors.lastname: Ooi
authors.forename: I
authors.initials: I
authors.lastname: Rose
mesh_terms: D000900:Anti-Bacterial Agents / Q000627:therapeutic use; D017809:Fatal Outcome; D006105:Granulomatous Disease, Chronic / Q000175:diagnosis* / Q000188:drug therapy / Q000276:immunology; D006801:Humans; D007111:Immunity, Cellular; D007223:Infant; D007371:Interferon-gamma / Q000627:therapeutic use; D008296:Malaysia; D008297:Male; D010587:Phagocytosis
chemical_list: D000900:Anti-Bacterial Agents; D007371:Interferon-gamma