Autosomal chronic granulomatous disease: Case report and mutation analysis of two Brazilian siblings

Jornal de Pediatria

Volumn 80, Issue 5, 2004, Pages 425-428

  Prando Andrade, Carolina ^a   Agudelo Florez, Piedad ^a   Lopez, Juan A ^a   Paiva, Maria Aparecida De Souza ^b   Costa Carvalho, Beatriz T ^c   Condino Neto, Antonio ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

^b HOSPITAL DOS SERVIDORES DO ESTADO   (Brazil)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

Author keywords

Chronic granulomatous disease; Immunodeficiency; NADPH oxidase; p47 phox

Indexed keywords

AMPICILLIN; ANTIBIOTIC AGENT; CEFALOTIN; CHLORAMPHENICOL; CIPROFLOXACIN; COTRIMOXAZOLE; DINUCLEOTIDE; NITROBLUE TETRAZOLIUM; PROTEIN P47; RECOMBINANT GAMMA INTERFERON; SUPEROXIDE; ANION; NEUTROPHIL CYTOSOLIC FACTOR 1; PHOSPHOPROTEIN; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL DISORDER; BRAZIL; CANDIDA; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; DISEASE SEVERITY; DNA SEQUENCE; ELECTROPHORETIC MOBILITY; EXON; FEMALE; GENE DELETION; GRANULOMATOSIS; HUMAN; IMMUNE DEFICIENCY; IMPETIGO; LABORATORY TEST; LIVER ABSCESS; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PNEUMONIA; SIBLING; SINGLE STRAND CONFORMATION POLYMORPHISM; STREPTOCOCCUS PNEUMONIAE; TREATMENT RESPONSE; CHILD; CHRONIC GRANULOMATOUS DISEASE; GENETIC POLYMORPHISM; GENETICS; INFECTION; MUTATION; PEDIGREE;

ANIONS; BASE SEQUENCE; CHILD; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFECTION; MALE; MUTATION; NADPH OXIDASE; PEDIGREE; PHOSPHOPROTEINS; PNEUMONIA; POLYMORPHISM, GENETIC;

EID: 28744458104     PISSN: 00217557     EISSN: None     Source Type: Journal    
DOI: 10.2223/1229     Document Type: Article

References (16)

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