Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase

Human Mutation

Volumn 27, Issue 12, 2006, Pages 1218-1229

  Roos, Dirk ^a,h   De Boer, Martin ^a   Köker, M Yavuz ^b   Dekker, Jan ^a   Singh Gupta, Vinita ^a   Åhlin, Anders ^c   Palmblad, Jan ^d   Sanal, Özden ^b   Kurenko Deptuch, Magdalena ^e   Jolles, Stephen ^f   Wolach, Baruch ^g  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

^b HACETTEPE UNIVERSITY   (Turkey)

^c SACHS CHILDREN S HOSPITAL   (Sweden)

^d KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^e CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^f UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^g MEIR MEDICAL CENTER   (Israel)

^h SANQUIN RESEARCH   (Netherlands)

Author keywords

CGD; Chronic granulomatous disease; Immunogenetics; Immunology; NCF1; Neutrophil cytosolic factor; Pseudogenes

Indexed keywords

PRIMER DNA; PROTEIN P47; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE;

ARTICLE; AUTOSOMAL INHERITANCE; CHRONIC GRANULOMATOUS DISEASE; CONTROLLED STUDY; ENZYME STRUCTURE; EXON; FEMALE; GENE; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENETIC RECOMBINATION; GENETIC SCREENING; HETEROZYGOTE; HOMOZYGOTE; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INTRON; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUTROPHIL CYTOSOLIC FACTOR 1 GENE; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PHAGOCYTE; POINT MUTATION; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; PSEUDOGENE; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CHILD; DNA MUTATIONAL ANALYSIS; FAMILY; FEMALE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; MALE; MUTATION; NADPH OXIDASE; PEDIGREE; PHAGOCYTES; PREGNANCY; PRENATAL DIAGNOSIS;

EID: 33750984791     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/humu.20413     Document Type: Article

References (26)

1. Antonell A, de Luis O, Domingo-Roura X, Pérez-Jurado LA. 2006. Evolutionary mechanisms shaping the genomic structure of the Williams-Beuren syndrome chromosomal region at human 7q11. 23. Genome Res 15:1179-1188.
2. Bolanowski A, Mannon RB, Holland SM, Malech HL, Ashan J, Palmblad J, Hale DA, Kirk AD. 2006. Successful renal transplantation in patients with chronic granulomatous disease. Am J Transplant 6:636-609.
3. Casimir CM, Bu-Chanim HN, Rodaway ARF, Bentley DL, Rowe P, Segal AW. 1991. Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. Proc Natl Acad Sci USA 88:2753-2757.
4. Cross AR, Curnutte JT. 1995. The cytosolic activating factors p47-phox and p67-phox have distinct roles in the regulation of electron flow in NADPH oxidase. J Biol Chem 270:6543-6548.
5. phox-deficient chronic gramilomatous disease due to a novel point mutation in NCF1. Prenatal Diagn 22:235-240.
6. phox-deficient autosomal recessive chronic granulomatous disease. Exp Hematol 29:1319-1325.
7. den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12.
8. Foster CB, Lehrnbecher T, Mol F, Steinberg SM, Venzon DJ, Walsh TJ, Noack D, Rac J, Winkelstein JA, Curnutte JT, Chanock SJ. 1998. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest 102:2146-2155.
9. Goerlach A, Lee LP, Roesler J, Hopkins PJ, Christensen B, Green ED, Chanock SJ, Curnutte JT. 1997. A p47-phox pseudogene carries the most common mutation causing p47-phox-deficient chronic granulomatous disease. J Clin Invest 100:1907-1918.
10. Heyworth PG, Noack D, Cross AR. 2002. Identification of a novel NCF-1 (p47-phox) pseudogene not containing the signature GT deletion: significance for A47° chronic granulomatous disease carrier detection. Blood 100:1845-1851.
11. International Cooperative Chronic Granulomatous Disease Study Group. 1991. A controlled trial ot interferon-gamma to prevent infection in chronic granulomatous disease. N Engl J Med 324:509-516.
12. Iwara M, Nunoi H, Yamazaki H, Nakano T, Niwa H, Tsuruta S, Ohga S, Ohmi S, Kanegasaki S, Matsuda I. 1994. Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. Biochem Biophys Res Commun 199:1372-1377.
13. Margolis DM, Melnick DA, Allings DW, Gallin J. 1990. Trimethaprim- sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis 162:723-726.
14. Meerhof L, Roos D. 1986. Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J Leukoc Biol 36:699-711.
15. Noack D, Rae J, Cross AR, Ellis BA, Newburger PE, Curnutte JT, Heyworth PG. 2001. Autosomal chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. Blood 97:305-311.
16. Roesler J, Curnutre JT, Rae J, Barrett D, Patino P, Chnnock SJ, Goerlach A. 2000. Recombination events between the p47-phox gene and its highly homologous pseudogenes arc the main cause of autosomal recessive chronic granulomatous disease. Blood 95:2150-2156.
17. Roos D, de Boer M. 1986. Purification and cryopreservation of phagocytes from human blood. Methods Enzymol 132:225-243.
18. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW, Ahlin A, Nemet K, Hossle JP, Bernatowska-Matuszkiewicz E, Middleton-Price H. 1996. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 87:1663-1681.
19. Roos D, Curnutte JT. 1999. Chronic granulomatous disease. In: Ochs HD, Smith CIE, Puck JM, editors. Primary immunodeficiency diseases, a molecular and genetic approach. New York: Oxford University Press. p 353-374.
20. Van Pelt LJ, van Zwieten R, Weening RS, Roos D, Verhoeven AJ, Bolscher BGJM. 1996. Limitations on rhe use of dihydrorhodamine-1,2,3 for flow cytometric analysis of the neutrophil respiratory burst. J Immunol Methods 191:187-196.
21. Vázquez N, Lehrnbecher T, Chen R, Christensen BL, Gallin JI, Malech H, Holland S, Zhu S, Chanock SJ. 2001. Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: the significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes. Exp Hematol 29:234-243.
22. 558 of human neutrophils. Blood 73:1686-1694.
23. Verhoeven AJ, Leusen JHW, Kessels OCR, Hilarius PM, de Bonr DBA, Liskamp RMJ. 1993. Inhibition of neutrophil NADPH oxidase assembly by a myristoylated pseudosubstrate of protein kinase C. J Biol Chem 268:18593-18598.
24. Volpp BD, Lin Y. 1993. In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease patients. J Clin Invest 91:201-207.
25. Weening RS, Adriaansz LH, Weemaes CMR, Lutter R, Roos D. 1985. Clinical differences in chronic granulomatous disease in patients with cytochrome b-negative or cytochrome b-positive neutrophils. J Pediatr 107:102-104.
26. Winkelstein JA, Marino MC, Johnston RB, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H. 2000. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine 79:155-169.