title: [Chronic granulomatous disease and McLeod phenotype. Description of a case].
abstract: 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.
authors.affiliation: Istituto di Clinica Pediatrica, Università degli Studi di Pisa.
authors.forename: G
authors.initials: G
authors.lastname: Saggese
authors.forename: G I
authors.initials: GI
authors.lastname: Baroncelli
authors.forename: S
authors.initials: S
authors.lastname: Bertelloni
authors.forename: M
authors.initials: M
authors.lastname: Gualtieri
authors.forename: C
authors.initials: C
authors.lastname: Carlotti
authors.forename: L
authors.initials: L
authors.lastname: Cinquanta
mesh_terms: D004913:Erythrocytes, Abnormal; D008040:Genetic Linkage / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000097:blood / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome
vernacular_title: Malattia granulomatosa cronica e fenotipo McLeod. Descrizione di un caso.