title: X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.
authors.affiliation: Division of Immunology, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina. cbarese@iupui.edu
authors.forename: Cecilia
authors.initials: C
authors.lastname: Barese
authors.forename: Silvia
authors.initials: S
authors.lastname: Copelli
authors.forename: Rubén
authors.initials: R
authors.lastname: Zandomeni
authors.forename: Matías
authors.initials: M
authors.lastname: Oleastro
authors.forename: Marta
authors.initials: M
authors.lastname: Zelazko
authors.forename: Eva María
authors.initials: EM
authors.lastname: Rivas
mesh_terms: D000293:Adolescent; D000328:Adult; D001118:Argentina / Q000453:epidemiology; D002648:Child; D002675:Child, Preschool; D002761:Cholangitis / Q000453:epidemiology / Q000209:etiology; D041321:Chromosomes, Human, X / Q000235:genetics*; D018389:Codon, Nonsense; D003556:Cystitis / Q000453:epidemiology / Q000209:etiology; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D006105:Granulomatous Disease, Chronic / Q000150:complications / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D007223:Infant; D007239:Infections / Q000453:epidemiology / Q000209:etiology; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases / Q000235:genetics*; D009920:Orchitis / Q000453:epidemiology / Q000209:etiology; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D018807:Polymorphism, Single-Stranded Conformational; D017384:Sequence Deletion; D014397:Tuberculosis, Pulmonary / Q000453:epidemiology / Q000209:etiology
chemical_list: D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases