title: [Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency].
abstract: BACKGROUND
  The cytosolic protein p47-phox (phagocyte oxidase) is one of the essential components of the superoxide generating system in phagocytes and its defect causes approximately 30% of the chronic granulomatous disease (CGD) cases.
  
  
  OBJECTIVE
  Two patients were studied, belonging to the same family, without a consanguinous background, in which deficiency or absence of superoxide generation was found together with recurrent and severe infections in one case and benign infections in the second.
  
  
  METHODS
  The presence of gp91-, p67- and p47-phox in patients and controls was determined by Western Blot analysis of granulocytes. Sequencing of PCR amplified DNA was performed by an enzymatic method.
  
  
  RESULTS
  Western Blot analysis showed normal expression of gp91 and p67 and absence of p47-phox. The molecular genetic study demonstrated a homocygotic dinucleotide GT (GT) deletion at the beginning of exon 2 of the p47-phox gene. The same mutation has been found in European, American and Japanese patients.
  
  
  CONCLUSIONS
  The molecular characterization of this pathology done for the first time in Chile is important for diagnostic classification, patient prognosis, and adequate genetic advice and a possible future therapy.
authors.affiliation: Cátedra de Inmunología, Escuela de Medicina, Universidad de Valparaíso, Chile. monica.cornejo@uv.cl
authors.forename: M
authors.initials: M
authors.lastname: Cornejo De Luigi
authors.forename: J A
authors.initials: JA
authors.lastname: López
authors.forename: S
authors.initials: S
authors.lastname: Navarro
authors.forename: D
authors.initials: D
authors.lastname: García
authors.forename: P J
authors.initials: PJ
authors.lastname: Patiño
mesh_terms: D000293:Adolescent; D000328:Adult; D015153:Blotting, Western; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D004797:Enzyme-Linked Immunosorbent Assay; D006098:Granulocytes / Q000201:enzymology; D006105:Granulomatous Disease, Chronic / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D019255:NADPH Oxidases; D010375:Pedigree; D010750:Phosphoproteins / Q000172:deficiency*; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1