[Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency].
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.
Cornejo De Luigi
M
M
Cátedra de Inmunología, Escuela de Medicina, Universidad de Valparaíso, Chile. monica.cornejo@uv.cl
López
J A
JA
Navarro
S
S
García
D
D
Patiño
P J
PJ
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
D010750:Phosphoproteins; D019255:NADPH Oxidases; C060505:neutrophil cytosolic factor 1