Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients

Journal of Allergy and Clinical Immunology

Volumn 132, Issue 5, 2013, Pages

  Köker, Mustafa Yavuz ^a   Camcioǧlu, Yildiz ^b   Van Leeuwen, Karin ^c   Kiliç, Sara Şebnem ^d   Barlan, Işil ^e   Yilmaz, Mustafa ^f   Metin, Ayşe ^g   De Boer, Martin ^c   Avcilar, Hüseyin ^a   Patiroǧlu, Türkan ^a   Yildiran, Alişan ^h   Yeǧin, Olcay ⁱ   Tezcan, Ilhan ^j   Sanal, Özden ^j   Roos, Dirk ^c  

^a ERCIYES UNIVERSITY   (Turkey)

^b ISTANBUL UNIVERSITY   (Turkey)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d ULUDAG UNIVERSITY   (Turkey)

^e MARMARA UNIVERSITY   (Turkey)

^f CUKUROVA UNIVERSITY   (Turkey)

^g ANKARA ONCOLOGY HOSPITAL   (Turkey)

^h ONDOKUZ MAYIS UNIVERSITY   (Turkey)

ⁱ AKDENIZ UNIVERSITY   (Turkey)

^j HACETTEPE UNIVERSITY   (Turkey)

more..

Author keywords

Chronic granulomatous disease; CYBA; CYBB; dihydrorhodamine 1,2,3 assay; mean fluorescence intensity; NCF1; NCF2; nicotinamide dinucleotide phosphate reduced oxidase; stimulation index

Indexed keywords

BCG VACCINE; COTRIMOXAZOLE; GAMMA INTERFERON; ITRACONAZOLE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; TUBERCULOSTATIC AGENT;

ABSCESS; ADOLESCENT; ADULT; ARTICLE; AUTOIMMUNE DISEASE; AUTOSOMAL RECESSIVE DISORDER; BCG VACCINATION; CAUSE OF DEATH; CHILD; CHRONIC GRANULOMATOUS DISEASE; CLINICAL FEATURE; CONTROLLED STUDY; CYBA GENE; CYBB GENE; DISEASE SEVERITY; ENZYME ACTIVITY; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; INFECTION; LYMPHADENITIS; MAJOR CLINICAL STUDY; MALE; MEDICAL HISTORY; NCF1 GENE; NCF2 GENE; NEUTROPHIL; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEQUENCE ANALYSIS; STEM CELL TRANSPLANTATION; SURVIVAL RATE; TUBERCULOSIS; TURKEY (REPUBLIC);

EID: 84887019423     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2013.05.039     Document Type: Article

References (28)

1. D. Roos, T.W. Kuijpers, and J.T. Curnutte Chronic granulomatous disease H.D. Ochs, C.I.E. Smith, J.M. Puck, Primary immunodeficiency diseases 2nd ed. 2007 Oxford University Press New York 525 549
2. D. Roos, D.B. Kuhns, A. Maddalena, J. Roesler, J.A. Lopez, and T. Ariga Hematologically important mutations: X-linked chronic granulomatous disease (third update) Blood Cells Mol Dis 45 2010 246 265
3. D.B. Kuhns, W.G. Alvord, T. Heller, J.J. Feld, K.M. Pike, and B.E. Marciano Residual NADPH oxidase and survival in chronic granulomatous disease N Engl J Med 363 2010 2600 2610
4. J.M. Van den Berg, E. van Koppen, A. Ahlin, B.H. Belohradsky, E. Bernatowska, and L. Corbeel Chronic granulomatous disease: the European experience PLoS One 4 4 2009 e5234
5. D. Roos, D.B. Kuhns, A. Maddalena, J. Bustamante, C. Kannengiesser, and M. de Boer Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) Blood Cells Mol Dis 44 2010 291 299
6. M.Y. Köker, de Boer M. Sanal Ö, I. Tezcan, A. Metin, and C. Tan Skewing of X-chromosome inactivation in three generations of carriers with X-linked chronic granulomatous disease within one family Eur J Clin Invest 36 2006 257 264
7. M.Y. Köker, O. Sanal, M. de Boer, I. Tezcan, A. Metin, and F. Ersoy Mutations of chronic granulomatous disease in Turkish families Eur J Clin Invest 37 2007 589 595
8. O. Jirapongsananuruk, H.L. Malech, D.B. Kuhns, J.E. Niemela, M.R. Brown, and M. Anderson-Cohen Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay J Allergy Clin Immunol 111 2003 374 379
9. F. Fattahi, M. Badalzadeh, L. Sedighipour, M. Movahedi, M.R. Fazlollahi, and S.D. Mansouri Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease J Clin Immunol 31 2011 792 801
10. M.Y. Köker, K. van Leeuwen, M. de Boer, F. Çelmeli, A. Metin, and T.T. Özgür Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease Eur J Clin Invest 39 2009 311 319
11. D. Roos, M. de Boer, M.Y. Köker, J. Dekker, V. Singh-Gupta, and A. Åhlin Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47-phox component of the phagocyte NADPH oxidase Hum Mutat 27 2006 1218 1229
12. D. Roos, and M. de Boer Purification and cryopreservation of phagocytes from human blood Methods Enzymol 132 1986 225 243
13. M.Y. Köker, Ö. Sanal, K. van Leeuwen, M. de Boer, A. Metin, and T. PatIroǧlu Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations Eur J Clin Invest 39 2009 942 951
14. B. Martire, R. Rondelli, A. Soresina, C. Pignata, T. Broccoletti, and A. Finocchi Clinical features, long-term follow-up and outcome of a large cohort of patients with chronic granulomatous disease: an Italian multicenter study Clin Immunol 126 2008 155 164
15. J.A. Winkelstein, M.C. Marino, R.B. Johnston Jr., J. Boyle, J. Curnutte, and J.I. Gallin Chronic granulomatous disease. Report on a national registry of 368 patients Medicine (Baltimore) 79 2000 155 169
16. L.B. Jones, P. McGrogan, T.J. Flood, A.R. Gennery, L. Morton, and A. Thrasher Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry Clin Exp Immunol 152 2008 211 218
17. B. Wolach, R. Gavrieli, M. de Boer, G. Gottesman, J. Ben Ari, and M. Rottem Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients Clin Immunol 129 2008 103 114
18. J. Liese, S. Kloos, V. Jendrossek, T. Petropoulou, U. Wintergerst, and G. Notheis Long-term follow-up and outcome of 39 patients with chronic granulomatous disease J Pediatr 137 2000 687 693
19. A. Ahlin, M. de Boer, D. Roos, J. Leusen, C.I. Smith, and U. Sundin Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden Acta Paediatr 84 1995 1386 1394
20. S. Kobayashi, S. Murayama, S. Takanashi, K. Takahashi, S. Miyatsuka, and T. Fujita Clinical features and prognoses of 23 patients with chronic granulomatous disease followed for 21 years by a single hospital in Japan Eur J Pediatr 167 2008 1389 1394
21. P. Agudelo-Florez, C.C. Prando-Andrade, J.A. Lopez, B.T. Costa-Carvalho, A. Quezada, and F.J. Espinosa Chronic granulomatous disease in Latin American patients: clinical spectrum and molecular genetics Pediatr Blood Cancer 46 2006 243 252
22. Y.M. Kim, J.E. Park, J.Y. Kim, H.K. Lim, J.K. Nam, and M. Cho Genetic analysis of 10 unrelated Korean families with p22-phox-deficient chronic granulomatous disease: an unusually identical mutation of the CYBA gene on Jeju Island, Korea J Korean Med Sci 24 2009 1045 1050
23. D. Roos, D.B. Kuhns, A. Maddalena, J. Roesler, J.A. Lopez, and T. Ariga Hematologically important mutations: X-linked chronic granulomatous disease (third update) Blood Cells Mol Dis 45 2010 246 265
24. M.Y. Köker, O. Sanal, M. de Boer, I. Tezcan, A. Metin, and F. Ersoy Mutations of chronic granulomatous disease in Turkish families Eur J Clin Invest 37 2007 589 595
25. M.Y. Köker, K. van Leeuwen, M. de Boer, F. Çelmeli, A. Metin, and T.T. Özgür Six different CYBA mutations including three novel mutations in ten families from Turkey, resulting in autosomal recessive chronic granulomatous disease Eur J Clin Invest 39 2009 311 319
26. D. Roos, D.B. Kuhns, A. Maddalena, J. Bustamante, C. Kannengiesser, and M. de Boer Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update) Blood Cells Mol Dis 44 2010 291 299
27. D. Roos, M. de Boer, M.Y. Köker, J. Dekker, V. Singh-Gupta, and A. Åhlin Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47-phox component of the phagocyte NADPH oxidase Hum Mutat 27 2006 1218 1229
28. M.Y. Köker, Ö. Sanal, K. van Leeuwen, M. de Boer, A. Metin, and T. PatIroǧlu Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations Eur J Clin Invest 39 2009 942 951