Journal of Immunology Research
Volume 2017 (2017), Article ID 8745254, 17 pages
https://doi.org/10.1155/2017/8745254
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005–2015): New Studies and a Literature Review
1Department of Allergy and Immunology, Shanghai Children’s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
2Division of Immunology, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China
3Department of Internal Medicine, The Affiliated Hospital to Changchun University of Chinese Medicine, Changchun 130021, China
Correspondence should be addressed to Tong-Xin Chen; moc.oohay@cnixgnot
Received 29 September 2016; Revised 27 November 2016; Accepted 4 January 2017; Published 30 January 2017
Academic Editor: Alessandra Santos
Copyright © 2017 Jing Wu et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Linked References
- H. Berendes, R. A. Bridges, and R. A. Good, “A fatal granulomatosus of childhood: the clinical study of a new syndrome,” Minnesota Medicine, vol. 40, no. 5, pp. 309–312, 1957. View at Google Scholar · View at Scopus
- B. H. Landing and H. S. Shirkey, “A syndrome of recurrent infection and infiltration of viscera by pigmented lipid histiocytes,” Pediatrics, vol. 20, no. 3, pp. 431–438, 1957. View at Google Scholar
- D. Roos and M. de Boer, “Molecular diagnosis of chronic granulomatous disease,” Clinical and Experimental Immunology, vol. 175, no. 2, pp. 139–149, 2014. View at Publisher · View at Google Scholar · View at Scopus
- M. Esfandbod and M. Kabootari, “Images in clinical medicine. Chronic granulomatous disease,” The New England Journal of Medicine, vol. 367, no. 8, p. 753, 2012. View at Publisher · View at Google Scholar · View at Scopus
- B. H. Segal, L. Romani, and P. Puccetti, “Chronic granulomatous disease,” Cellular and Molecular Life Sciences, vol. 66, no. 4, pp. 553–558, 2009. View at Publisher · View at Google Scholar · View at Scopus
- W.-J. Ying, X.-C. Wang, J.-Q. Sun, D.-R. Liu, Y.-H. Yu, and J.-Y. Wang, “Clinical features of chronic granulomatous disease,” Chinese Journal of Pediatrics, vol. 50, no. 5, pp. 380–385, 2012. View at Google Scholar · View at Scopus
- J. El-Benna, P. M.-C. Dang, M.-A. Gougerot-Pocidalo, and C. Elbim, “Phagocyte NADPH oxidase: a multicomponent enzyme essential for host defenses,” Archivum Immunologiae et Therapiae Experimentalis, vol. 53, no. 3, pp. 199–206, 2005. View at Google Scholar · View at Scopus
- D. Roos, D. B. Kuhns, A. Maddalena et al., “Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update),” Blood Cells, Molecules, & Diseases, vol. 44, no. 4, pp. 291–299, 2010. View at Publisher · View at Google Scholar · View at Scopus
- Y. Gu, B. Jia, F.-C. Yang et al., “Biochemical and biological characterization of a human Rac2 GTPase mutant associated with phagocytic immunodeficiency,” Journal of Biological Chemistry, vol. 276, no. 19, pp. 15929–15938, 2001. View at Publisher · View at Google Scholar · View at Scopus
- J. A. Winkelstein, M. C. Marino, R. B. Johnston Jr. et al., “Chronic granulomatous disease. Report on a national registry of 368 patients,” Medicine, vol. 79, no. 3, pp. 155–169, 2000. View at Publisher · View at Google Scholar · View at Scopus
- J. M. van den Berg, E. van Koppen, A. Åhlin et al., “Chronic granulomatous disease: the european experience,” PLoS ONE, vol. 4, no. 4, Article ID e5234, 2009. View at Publisher · View at Google Scholar · View at Scopus
- F. Ishibashi, H. Nunoi, F. Endo, I. Matsuda, and S. Kanegasaki, “Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency,” Human Genetics, vol. 106, no. 5, pp. 473–481, 2000. View at Publisher · View at Google Scholar · View at Scopus
- T. S. Hasui, “Chronic granulomatous disease in Japan: incidence and natural history. The Study Group of Phagocyte Disorders of Japan,” Pediatrics International, vol. 41, no. 5, pp. 589–593, 1999. View at Publisher · View at Google Scholar
- E. B. de Oliveira-Junior, N. B. Zurro, C. Prando et al., “Clinical and genotypic spectrum of chronic granulomatous disease in 71 Latin American patients: first report from the LASID registry,” Pediatric Blood & Cancer, vol. 62, no. 12, pp. 2101–2107, 2015. View at Publisher · View at Google Scholar · View at Scopus
- H. Xu, W. Tian, S. J. Li et al., “Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china,” Journal of Clinical Immunology, vol. 34, no. 6, pp. 633–641, 2014. View at Publisher · View at Google Scholar
- W. Ying, J. Sun, D. Liu et al., “Clinical characteristics and immunogenetics of BCGosis/BCGitis in Chinese children: a 6 year follow-up study,” PLoS ONE, vol. 9, no. 4, Article ID e94485, 2014. View at Publisher · View at Google Scholar · View at Scopus
- H. Zeng, Y. Tao, X. Chen et al., “Primary immunodeficiency in South China: clinical features and a genetic subanalysis of 138 children,” Journal of Investigational Allergology and Clinical Immunology, vol. 23, no. 5, pp. 302–308, 2013. View at Google Scholar · View at Scopus
- M. E. Conley, L. D. Notarangelo, and A. Etzioni, “Diagnostic criteria for primary immunodeficiencies,” Clinical Immunology, vol. 93, no. 3, pp. 190–197, 1999. View at Publisher · View at Google Scholar
- C. Picard, W. Al-Herz, A. Bousfiha et al., “Primary immunodeficiency diseases: an update on the classification from the international union of Immunological societies expert committee for primary immunodeficiency 2015,” Journal of Clinical Immunology, vol. 35, no. 8, pp. 696–726, 2015. View at Publisher · View at Google Scholar · View at Scopus
- W. M. Nauseef, “Assembly of the phagocyte NADPH oxidase,” Histochemistry and Cell Biology, vol. 122, no. 4, pp. 277–291, 2004. View at Publisher · View at Google Scholar · View at Scopus
- J.-X. He, Q.-Q. Yin, Y.-J. Tong et al., “Diagnosis and carrier screening of X-linked chronic granulomatous disease by DHR 123 flow cytometry,” Chinese Journal of Contemporary Pediatrics, vol. 16, no. 1, pp. 81–84, 2014. View at Publisher · View at Google Scholar · View at Scopus
- J.-X. He, S.-Y. Zhao, and Z.-F. Jiang, “Severe Bacillus Calmette-Guerin lymphadenitis and X-linked chronic granulomatous disease in children,” Chinese Journal of Contemporary Pediatrics, vol. 12, no. 6, pp. 490–493, 2010. View at Google Scholar · View at Scopus
- J.-X. He, S.-Y. Zhao, B.-P. Xu, Y.-H. Hu, K.-L. Shen, and Z.-F. Jiang, “[Clinical features and molecular analysis of 2 Chinese children with autosomal recessive chronic granulomatous disease caused by CYBA mutations],” Zhonghua er ke za zhi. Chinese journal of pediatrics, vol. 49, no. 11, pp. 853–857, 2011. View at Google Scholar · View at Scopus
- J. X. He, Y. J. Guo, X. L. Feng, L. Wang, and B. P. Xu, “Chronic granulomatous disease and Mcleod syndrome caused by continuous X chromosome deletion: a report of two cases and literature review,” Journal of Clinical Pediatric, vol. 34, no. 8, pp. 614–617, 2016. View at Google Scholar
- J. X. He, J. Liu, X. Y. Liu, B. P. Xu, K. L. Shen, and Z. F. Jiang, “Burkholderia cepacia infections in children with X-linked chronic granulomatous disease,” Chinese Journal of Practical Pediatrics, no. 5, pp. 381–383, 2012. View at Google Scholar
- J. X. He, J. Yin, X. Y. liu, Y. H. Hu, A. D. Shen, and K. L. Shen, “ΔGT MUTATION of NCF1 in children with autosomal recessive chronic granulomatous disease,” Chinese Journal of Practical Pediatrics, no. 1, pp. 50–52, 2011. View at Google Scholar
- J. X. He, J. Yin, X. Y. Liu, S. Y. Zhao, B. P. Xu, and Y. H. Hu, “Invasive aspergillosis in 4 children with chronic granulomatous disease,” Journal of Clinical Pediatric Dentistry, vol. 30, no. 6, pp. 528–530, 2012. View at Google Scholar
- J. X. He, S. Y. Zhao, and Z. F. Jiang, “Recurrent pulmonary infections in pediatric patients with X-linked recessive chronic granulomatous disease: analysis of 3 cases,” Chinese Journal of Practical Pediatrics, no. 8, pp. 605–608, 2008. View at Google Scholar
- H. Y. Song, J. X. He, L. M. Fu, S. Y. Qian, and X. P. Zhang, “Sonographic appearance of liver/spleen in children with chronic granulomatous disease,” Chinese Medical Record, vol. 12, no. 4, pp. 4–6, 2011. View at Google Scholar
- J. Zhao, Y. Peng, and J. X. He, “Chest CT manifesmtiorts of chronic granulomatous disease in children,” Journal of Medical Imaging, vol. 22, no. 3, pp. 359–363, 2012. View at Google Scholar
- J. Yang, G. B. Wang, J. H. Huang, Y. Zu, Y. B. Li, and D. Fu, “X-linked chronic granulomatous disease family caused by anmino acid missing mutation in the gp91phox of flavocytochrome b558,” Chinese Journal of Obstetrics & Gynecology, vol. 2, no. 3, pp. 137–139, 2006. View at Google Scholar
- M. Y. Köker, Y. Camcıoğlu, K. van Leeuwen et al., “Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients,” The Journal of Allergy and Clinical Immunology, vol. 132, no. 5, pp. 1156–1163.e5, 2013. View at Publisher · View at Google Scholar · View at Scopus
- A. C. Hesseling, H. Rabie, B. J. Marais et al., “Bacille Calmette-Guérin vaccine—induced disease in HIV-infected and HIV-uninfected children,” Clinical Infectious Diseases, vol. 42, no. 4, pp. 548–558, 2006. View at Publisher · View at Google Scholar · View at Scopus
- S. Henriet, P. E. Verweij, S. M. Holland, and A. Warris, “Invasive fungal infections in patients with chronic granulomatous disease,” Advances in Experimental Medicine & Biology, vol. 764, no. 1, pp. 27–55, 2013. View at Publisher · View at Google Scholar · View at Scopus
- R. A. Seger, “Advances in the diagnosis and treatment of chronic granulomatous disease,” Current Opinion in Hematology, vol. 18, no. 1, pp. 36–41, 2011. View at Publisher · View at Google Scholar · View at Scopus
- M. Ishimura, H. Takada, T. Doi et al., “Nationwide survey of patients with primary immunodeficiency diseases in Japan,” Journal of Clinical Immunology, vol. 31, no. 6, pp. 968–976, 2011. View at Publisher · View at Google Scholar · View at Scopus
- J. M. Boyle and R. H. Buckley, “Population prevalence of diagnosed primary immunodeficiency diseases in the United States,” Journal of Clinical Immunology, vol. 27, no. 5, pp. 497–502, 2007. View at Publisher · View at Google Scholar · View at Scopus
- W.-I. Lee, J.-L. Huang, T.-H. Jaing et al., “Distribution, clinical features and treatment in Taiwanese patients with symptomatic primary immunodeficiency diseases (PIDs) in a nationwide population-based study during 1985–2010,” Immunobiology, vol. 216, no. 12, pp. 1286–1294, 2011. View at Publisher · View at Google Scholar · View at Scopus
- L. J. Gu and Y. C. Ye, “A case report of pediatric patient with chronic granulomatous disease,” Current Immunology, vol. 6, no. 1, pp. 33–36, 1981. View at Google Scholar
- F. Fattahi, M. Badalzadeh, L. Sedighipour et al., “Inheritance pattern and clinical aspects of 93 Iranian patients with chronic granulomatous disease,” Journal of Clinical Immunology, vol. 31, no. 5, pp. 792–801, 2011. View at Publisher · View at Google Scholar · View at Scopus
- B. Martire, R. Rondelli, A. Soresina et al., “Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an italian multicenter study,” Clinical Immunology, vol. 126, no. 2, pp. 155–164, 2008. View at Publisher · View at Google Scholar · View at Scopus
- J. Liese, S. Kloos, V. Jendrossek et al., “Long-term follow-up and outcome of 39 patients with chronic granulomatous disease,” The Journal of Pediatrics, vol. 137, no. 5, pp. 687–693, 2000. View at Publisher · View at Google Scholar · View at Scopus
- L. B. K. R. Jones, P. McGrogan, T. J. Flood et al., “Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry,” Clinical and Experimental Immunology, vol. 152, no. 2, pp. 211–218, 2008. View at Publisher · View at Google Scholar · View at Scopus
- R. A. Bridges, H. Berendes, and R. A. Good, “A fatal granulomatous disease of childhood; the clinical, pathological, and laboratory features of a new syndrome,” AMA Journal of Diseases of Children, vol. 97, no. 4, pp. 387–408, 1959. View at Publisher · View at Google Scholar · View at Scopus
- D. Roos, “Chronic granulomatous disease,” British Medical Bulletin, vol. 118, no. 1, pp. 50–63, 2016. View at Publisher · View at Google Scholar
- “A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease. The International Chronic Granulomatous Disease Cooperative Study Group,” The New England Journal of Medicine, vol. 324, no. 8, pp. 509–516, 1991. View at Publisher · View at Google Scholar