X-linked chronic granulomatous disease: first report of mutations in patients of Argentina.
Barese
Cecilia
C
Division of Immunology, Hospital de Niños Dr. Ricardo Gutiérrez, Buenos Aires, Argentina. cbarese@iupui.edu
Copelli
Silvia
S
Zandomeni
Rubén
R
Oleastro
Matías
M
Zelazko
Marta
M
Rivas
Eva María
EM
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
D018389:Codon, Nonsense; D008562:Membrane Glycoproteins; C056558:CYBB protein, human; D000074662:NADPH Oxidase 2; D019255:NADPH Oxidases