Chronic granulomatous disease and McLeod phenotype. Description of a case

Saggese, G.; Baroncelli, G.I.; Bertelloni, S.; Gualtieri, M.; Carlotti, C.; Cinquanta, L.

Minerva Pediatrica 42(4): 151-156


ISSN/ISBN: 0026-4946
PMID: 2377152
Document Number: 366525
Chronic granulomatous disease (CGD) is a genetic syndrome, mostly inherited as an X-linked recessive trait, characterized by severe and recurrent infections due to defective neutrophil leukocytes and monocytes respiratory burst and microbicidal activity. Consequently, the affected patients are prone to infections by catalase-positive bacteria and fungi. The Authors describe a case of X-linked CGD with red cells of the rare McLeod phenotype. These red cells show acanthocytosis and are not reacting with anti-Kx antibody. Moreover, the Authors discussed the diagnosis and chemotherapy of CGD in addition to biochemical and clinical characterization of McLeod phenotype.

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