Spectrum of function of neutrophils from carriers of sex-linked chronic granulomatous disease

• Published in: The Journal of pediatrics Vol. 87; no. 6; pp. 901 - 907
• Main Authors: Repine, John E., Clawson, C.C., White, James G., Holmes, Beulah
• Format: Journal Article
• Language: English
• Published: United States Mosby, Inc 01.12.1975
• Subjects: Blood Bactericidal Activity; Blood Glucose - metabolism; Female; Granulomatous Disease, Chronic - blood; Granulomatous Disease, Chronic - genetics; Humans; Male; Neutrophils - drug effects; Neutrophils - metabolism; Neutrophils - physiopathology; Nitroblue Tetrazolium - metabolism; Oxygen Consumption; Phagocyte Bactericidal Dysfunction - blood; Sex Chromosomes; Tetradecanoylphorbol Acetate - pharmacology
• ISSN: 0022-3476; 1097-6833
• DOI: 10.1016/S0022-3476(75)80902-4

Bactericidal and metabolic activities were compared for polymorphonuclear leukocytes from normal controls, patients with sex-linked chronic granulomatous disease, five obligate carriers, and six potential carriers of CGD. Bacteria surviving at one hour were quantitated in a standardized assay which employed 1.25 Staphylococcus aureus, per neutrophil. Heat-killed bacteria or a chemical agent, phorbol myristate acetate, were used to stimulate, increases in utilization of oxygen, oxidation of [1- 14C] glucose, and reduction of neotetrazolium chloride by PMN. The results demonstrate that PMN from the individual obligate carriers of CGD have a broad spectrum of functional capabilities. Neurophils from one obligate carrier performed in the above in vitro tests and others on a par with normal control cells whereas the PMN of others displayed deficiencies nearly as profound as those of the affected CGD patients. The observations parallel the broad range of phenotypic expression observed in heterozygotic carriers of other sex-linked recessive disorders as a result, of random inactivation of the X chromosome. Although predictable from the current concept of random X inactivation, the spectrum has not been previously demonstrated for carriers of sex-linked recessive CGD and thus has important implications for the detection and counseling of carriers of CGD.