The search for a genetic defect in Polish patients with chronic granulomatous disease

Archivum Immunologiae et Therapiae Experimentalis

Volumn 52, Issue 6, 2004, Pages 441-446

  Jurkowska, Monika ^a   Kurenko Deptuch, Magdalena ^b   Bal, Jerzy ^a   Roos, Dirk ^c  

^a INSTITUTE OF MOTHER AND CHILD   (Poland)

^b CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^c CENTRAL LABORATORY   (Netherlands)

Author keywords

CGD; CYBB; Molecular diagnostics; NADPH oxidase; NCF1

Indexed keywords

NITROBLUE TETRAZOLIUM;

ALLELE; ARTICLE; BACTERIAL INFECTION; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CORRELATION ANALYSIS; DISEASE COURSE; DISEASE SEVERITY; FEMALE; FRAMESHIFT MUTATION; GENE DELETION; GENE SEQUENCE; GENETIC DISORDER; GENOTYPE; HOMOZYGOTE; HOST RESISTANCE; HUMAN; MALE; MISSENSE MUTATION; MUTATION; MYCOSIS; NITROBLUE TETRAZOLIUM TEST; NUCLEOTIDE SEQUENCE; PHAGOCYTE; PHENOTYPE; PROTEIN BINDING; SOUTHERN BLOTTING;

CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; FEMALE; GENOTYPE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; LINKAGE (GENETICS); MALE; MEMBRANE GLYCOPROTEINS; MUTATION; NADPH OXIDASE; PHENOTYPE; PHOSPHOPROTEINS; POLAND;

EID: 12244259733     PISSN: 0004069X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (21)

1. Babior B. M. (2004): NADPH oxidase. Curr. Opin. Immunol., 16, 42-47.
2. Chanock S. J., Roesler J., Zhan S., Hopkins P., Lee P., Barrett D. T., Christensen B. L., Curnutte J. T. and Gorlach A. (2000): Genomic structure of the human p47-phox (NCF1) gene. Blood Cells Mol. Dis., 26, 37-46.
3. Cross A. R., Noack D., Rae J., Curnutte J. T. and Heyworth P. G. (2000): Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). Blood Cells Mol. Dis., 26, 561-565.
4. Curnutte J. (1992): Molecular basis of the autosomal recessive forms of chronic granulomatous disease. Immunodefic. Rev., 3, 149-172.
5. de Boer M., Singh V., Dekker J., Di Rocco M., Goldblatt D. and Roos D. (2002): Prenatal diagnosis in two families with autosomal. p47(phox)-deficient chronic granulomatous disease due to a novel point mutation in NCF1. Prenat. Diagn., 22, 235-240.
6. Dekker J., de Boer M. and Roos D. (2001): Gene-scan method for the recognition of carriers and patients with p47(phox)-deficient autosomal recessive chronic granulomatous disease. Exp. Hematol., 29, 1319-1325.
7. Foster C. B., Lehrnbecher T., Mol F., Steinberg S. M., Venzon D. J., Walsh T. J., Noack D., Rae J., Winkelstein J. A., Curnutte J. T. and Chanock S. J. (1998): Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J. Clin. Invest., 102, 2146-2155.
8. Goldblatt D. (2002): Current treatment options for chronic granulomatous disease. Expert Opin. Pharmacother., 3, 857-863.
9. Hampton M. B., Kettle A. J. and Winterbourn C. C. (1998): Inside the neutrophil phagosome: oxidants, myeloperoxidase, and bacterial killing. Blood, 92, 3007-3017.
10. Heyworth P. G., Curnutte J. T., Rae J., Noack D., Roos D., van Koppen E. and Cross A. R. (2001): Hematologically important mutations: X-linked chronic granulomatous disease (second update). Blood Cells Mol. Dis., 27, 16-26.
11. Jurkowska M., Bernatowska E. and Bal J. (2004): Genetic and biochemical background of chronic granulomatous disease. Arch. Immunol. Ther. Exp., 52, 113-120.
12. Kuribayashi F., de Boer M., Leusen J. H. W., Verhoeven A. J. and Roos D. (1996): A novel polymorphism in the coding region of CYBB, the human gp91-phox gene. Hum. Genet., 97, 611-613.
13. phos. J. Clin. Invest., 93, 2120-2126.
14. Lin S. J., Huang Y. F., Chen J. Y., Heyworth P. G., Noack D., Wang J. Y., Lin C. Y., Chiang B. L., Yang C. M., Lin C. C. and Shieh C. C. (2002): Molecular quality control machinery contributes to the leukocyte NADPH oxidase deficiency in chronic granulomatous disease. Biochim. Biophys. Acta, 1586, 275-286.
15. Rae J., Newburger P. E., Dinauer M. C., Noack D., Hopkins P. J., Kuruto R. and Curnutte J. T. (1998): X-linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase Am. J. Hum. Genet., 62, 1320-1331.
16. Roos D. and Curnutte J. T. (1999): Chronic granulomatous disease. In: Ochs H. D., Smith C. I. E. and Puck J. M. (eds.): Primary Immunodeficiency Diseases. A Molecular and Genetic Approach, Oxford University Press, New York. Oxford, pp. 353-374.
17. 558-negative form of the disease. J. Leukoc. Biol., 51, 164-171.
18. Roos D., de Boer M., Kuribayashi F., Meisehl C., Weening R. S., Segal A. W., Ahlin A., Nemet K., Hossle J. P., Bernatowska E. and Middleton-Price H. (1996): Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood, 87, 1663-1681.
19. Schwickerath O., Brouns G., Thrasher A., Kinnon C., Roes J. and Casimir C. (2004): Enhancer-deleted retroviral vectors restore high levels of superoxide generation in a mouse model of CGD. J. Gene Med., 6, 603-615.
20. Skopczyńska H., Roos D., Rabbani H. and Bernatowska E. (1997): Rodzaj mutacji genowej a przebieg kliniczny przewlekłej choroby ziarniniakowej. Pediatria Polska 72, 119-128.
21. -245 β-chain. Protein Sci., 2, 1675-1685.