[Hereditary myeloperoxidase deficiency. Clinical, biological and genetic study].
A case is reported of hereditary myeloperoxidase deficiency in a diabetic patient suffering from a Candida albicans hepatic abscess. Myeloperoxidase (MPO) is completely absent from the neutrophils and monocytes, although it is present in the eosinophils. Functional granulocyte studies have revealed normalchemotactic and phagocytic activity, although the bacterial activity is partially diminished with regard to Staphylococcus aureus and is almost nil with regard to Candida albicans. The granulocytic metabolism, when stimulated by zymosan, is characterized by greatly increased oxygen consumption. Genetic investigations have been conducted in 28 members of the patient's family. Cyto- and biochemical determination of MPO is clearly diminished in close relatives of the patient. Genetic analysis indicates recessive autosomal transmission with variable expressivity of the gene for the heterozygote state.
D000328:Adult; D002176:Candida albicans / Q000302:isolation & purification; D048909:Diabetes Complications; D005260:Female; D005808:Genes, Recessive; D005826:Genetics, Medical; D006801:Humans; D008100:Liver Abscess / Q000150:complications / Q000382:microbiology; D009000:Monocytes / Q000201:enzymology*; D009504:Neutrophils / Q000201:enzymology* / Q000378:metabolism; D010101:Oxygen Consumption; D009195:Peroxidase / Q000172:deficiency*; D010544:Peroxidases / Q000172:deficiency*
D010544:Peroxidases; D009195:Peroxidase
Déficience héréditaire en myéloperoxydase.