Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease

European Journal of Clinical Investigation

Volumn 39, Issue 4, 2009, Pages 311-319

  Koker M Y ^a,b,d   Van Leeuwen, K ^c   De Boer, M ^c   Celmeli F ^a   Metin, A ^b   Ozgur T T ^a   Tezcan, I ^a   Sanal, O ^a   Roos, D ^c  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF AMSTERDAM   (Netherlands)

^c AKDENIZ UNIVERSITY   (Turkey)

^d Diskapi Education and Research Hospital   (Turkey)

Author keywords

Chronic granulomatous disease; Consanguineous marriages; CYBA; DHR assay; Immunodeficiency; P22 phox

Indexed keywords

AMIKACIN; AMINOGLYCOSIDE; AMPHOTERICIN B LIPID COMPLEX; ANTIFUNGAL AGENT; COTRIMOXAZOLE; CYTOCHROME B558; IMIPENEM; ISONIAZID; ITRACONAZOLE; PROTEIN P22; RECOMBINANT GAMMA INTERFERON; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; RIFAMPICIN; VANCOMYCIN; VORICONAZOLE;

ADOLESCENT; ADULT; AGE DISTRIBUTION; ARTICLE; ASPERGILLOSIS; AUTOSOMAL RECESSIVE DISORDER; CELL ASSAY; CERVICAL LYMPHADENOPATHY; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; ENZYME ACTIVITY; EXON; FAMILY HISTORY; FEMALE; FLOW CYTOMETRY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; HUMAN CELL; LEUKOCYTE; LUNG ABSCESS; LYMPHADENITIS; MALE; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NONSENSE MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SERRATIA INFECTION; TURKEY (REPUBLIC);

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; GRANULOMATOUS DISEASE, CHRONIC; HUMANS; INFANT; MALE; MUTATION; NADPH OXIDASE; PEDIGREE; TURKEY;

EID: 62349107356     PISSN: 00142972     EISSN: 13652362     Source Type: Journal    
DOI: 10.1111/j.1365-2362.2009.02093.x     Document Type: Article

References (37)

1. Roos D, Kuijpers TW, Curnutte JT. Chronic granulomatous disease. In : Ochs HD, Smith CIE, Puck JM, editors. Primary Immunodeficiencies. 2nd ed. New York : Oxford University Press 2007. pp. 525 49.
2. -245 subunits from neutrophils in X-linked chronic granulomatous disease. Nature 1987 326 : 88 91.
3. Parkos CA, Allen RA, Cochrane CG, Jesaitis AJ. Purified cytochrome b from human granulocyte plasma membrane is comprised of two polypeptides with relative molecular weights of 91,000 and 22,000. J Clin Invest 1987 80 : 732 42.
4. Segal AW, Heyworth PG, Cockcroft S, Barrowman MM. Stimulated neutrophils from patients with autosomal recessive chronic granulomatous disease fail to phosphorylate a Mr-44,000 protein. Nature 1985 317 : 547 9.
5. Volpp BD, Nauseef WM, Clark RA. Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. Science 1988 242 : 1295 7.
6. Clark RA, Malech HL, Gallin JI, Nunoi H, Volpp BD, Pearson DW et al. Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. N Engl J Med 1989 21 : 47 52.
7. Wientjes FB, Hsuan JJ, Totty NF, Segal AW. p40-phox, a third cytosolic component of the activation complex of the NADPH oxidase to contain src homology 3 domains. Biochem J 1993 296 : 557 61.
8. Roos D, de Boer M, Kuribayashi F, Meischl C, Weening RS, Segal AW et al. Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. Blood 1996 87 : 1663 81.
9. Ambruso DR, Knall C, Abell AN, Panepinto J, Kurkchubasche A, Thurman G et al. Human neutrophil immunodeficiency syndrome is associated with an inhibitory Rac2 mutation. Proc Natl Acad Sci USA 2000 97 : 4654 9.
10. Köker MY, Sanal O, de Boer M, Tezcan I, Metin A, Ersoy F et al. Mutations of chronic granulomatous disease in Turkish families. Eur J Clin Invest 2007 37 : 589 95.
11. Teimourian S, Zomorodian E, Badalzadeh M, Pouya A, Kannengiesser C, Mansouri D et al. Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. Br J Haematol 2008 141 : 848 51.
12. Dinauer MC, Pierce EA, Bruns GAP, Curnutte JT, Orkin SH. Human neutrophil cytochrome b light chain (p22phox): gene structure, chromosomal localization and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest 1990 86 : 1729 37.
13. Povey S, Lovering R, Bruford E, Wright M, Lush M, Wain H. The HUGO gene nomenclature committee (HGNC). Hum Genet 2001 109 : 678 80.
14. Den Dunnen JT, Antonarakis E. Nomenclature for the description of human sequence variations. Hum Genet 2001 109 : 121 4.
15. Roos D, de Boer M. Purification and cryopreservation of phagocytes from human blood. Methods Enzymol 1986 132 : 225 43.
16. Meerhof LJ, Roos D. Heterogeneity in chronic granulomatous disease detected with an improved nitroblue tetrazolium slide test. J Leukoc Biol 1986 39 : 699 711.
17. Weening RS, Wever R, Roos D. Quantitative aspects of the production of superoxide radicals by phagocytizing human granulocytes. J Lab Clin Med 1975 85 : 245 52.
18. van Pelt LJ, van Zwieten R, Weening RS, Roos D, Verhoeven AJ, Bolscher BG. Limitations on the use of dihydrorhodamine-1,2,3 for flowcytometric analysis of the neutrophil respiratory burst. J Immunol Methods 1996 191 : 187 96.
19. Yamauchi A, Yu L, Pötgens AJ, Kuribayashi F, Nunoi H, Kanegasaki S et al. Location of the epitope for 7D5, a monoclonal antibody raised against human flavocytochrome b558, to the extracellular peptide portion of primate gp91phox. Microbiol Immunol 2001 45 : 249 57.
20. 558 of human neutrophils. Blood 1989 73 : 1686 94.
21. Stasia MJ, Bordigoni P, Martel C, Morel F. A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A220) leading to the activation of a cryptic splice site in intron 4. Hum Genet 2002 110 : 444 50.
22. de Boer M, Hartl D, Wintergerst U, Belohradsky BH, Roos D. A donor splice site mutation in intron 1 of CYBA, leading to chronic granulomatous disease. Blood Cells Mol Dis 2005 35 : 365 9.
23. Rae J, Noack D, Heyworth PG, Ellis BA, Curnutte JT, Cross AR. Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22-phox. Blood 2000 96 : 1106 12.
24. Ishibashi F, Nunoi H, Endo F, Matsuda I, Kanegasaki S. Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. Hum Genet 2000 106 : 473 81.
25. Yamada M, Ariga T, Kawamura M, Ohtsu M, Imajoh-Ohmi S, Ohshika E et al. Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. Br J Haematol 2000 108 : 511 7.
26. Wolach B, Gavrieli R, de Boer M, Gottesman G, Ben-Ari J, Rottem M et al. Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients. Clin Immunol 2008 129 : 103 14.
27. Kannengiesser C, Gérard B, El Benna J, Henri D, Kroviarski Y, Chollet-Martin S et al. Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. Hum Mutat 2008 10 : 132 49.
28. Dinauer MC, Pierce EA, Bruns GA, Curnutte JT, Orkin H. Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosoma location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. J Clin Invest 1990 86 : 1729 37.
29. Dinauer MC, Pierce EA, Erickson RW, Muhlebach TJ, Messner H, Orkin SH et al. Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. Proc Natl Acad Sci U S A 1991 88 : 11231 5.
30. de Boer M, de Klein A, Hossle JP, Seger R, Corbeel L, Weening RS et al. Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). Am J Hum Genet 1992 51 : 1127 35.
31. Porter CD, Parkar MH, Kinnon C. Identification of a donor splice site mutation leading to loss of p22-phox exon 5 in autosomal chronic granulomatous disease. Hum Mutat 1996 7 : 374.
32. Cross AR, Noack D, Rae J, Curnutte JT, Heyworth PG. Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (first update). Blood Cells Mol Dis 2000 26 : 561 5.
33. El Kares R, Barbouche MR, Elloumi-Zghal H, Bejaoui M, Chemli J, Mellouli F et al. Genetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in Tunisia. J Hum Genet 2006 51 : 887 95.
34. Bakri FG, Martel C, El-Khateeb MS, Hamamy HA, Khuri-Bulos N, Mahafzah A et al. First report of chronic granulomatous disease in ten Jordanian families. Eur J Clin Invest 2008 79 (Suppl. 1) : 71 Medline.
35. Vowells SJ, Fleisher TA, Sekhsaria S, Alling DW, Maguire TE, Malech HL. Genotype-dependent variability in flow cytometric evaluation of reduced nicotinamide adenine dinucleotide phosphate oxidase function in patients with chronic granulomatous disease. J Pediatr 1996 128 : 104 7.
36. Winkelstein JA, Marino MC, Johnston RB Jr., Boyle J, Curnutte JT, Gallin JI et al. CGD: report on a national registry of 368 patients. Medicine 2000 79 : 155 69.
37. Stasia MJ, Li XJ. Genetics and immunopathology of chronic granulomatous disease. Semin Immunopathol 2008 30 : 209 35.