Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea

  • Son, Sohee (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kang, Ji-Man (Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine) ;
  • Hahn, Younsoo (Department of Pediatrics, Chungbuk National University Hospital) ;
  • Ahn, Kangmo (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kim, Yae-Jean (Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • 투고 : 2019.10.18
  • 심사 : 2020.06.03
  • 발행 : 2021.04.15
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초록

There are very scant data on the epidemiology of primary immunodeficiency diseases (PIDs) in Korea. Here we attempted to estimate the PID epidemiology and disease burden in Korea. A systematic review was performed of studies retrieved from the PubMed, KoreaMed, and Google Scholar databases. Studies on PIDs published in Korean or English between January 2001 and November 2018 were analyzed. The number of PID patients and the healthcare costs were estimated from Health Insurance Review and Assessment Service (HIRA) Korea data for 2017. A total of 398 PID patients were identified from 101 reports. Immunodeficiencies affecting cellular and humoral immunity were reported in 11 patients, combined immunodeficiency with associated or syndromic features in 40, predominantly antibody deficiencies in 144, diseases of immune dysregulation in 58, congenital defects of phagocytes in 104, defects in the intrinsic and innate immunity in 1, auto-inflammatory disorders in 4, complement deficiencies in 36, and phenocopies of PID in none. From the HIRA reimbursement data, a total of 1,162 outpatients and 306 inpatients were treated for 8,166 and 6,149 days, respectively. In addition, reimbursement was requested for 8,200 outpatient and 1,090 inpatient cases and $1,924,000 and $4,715,000 were reimbursed in 2017, respectively. This study systematically reviewed published studies on PID and analyzed the national open data system of the HIRA to estimate the disease burden of PID, for the first time in Korea.

키워드

과제정보

This study was supported by the Basic Science Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Education (NRF-2016R1A6A3A11932463).

참고문헌

  1. Bousfiha AA, Jeddane L, Ailal F, Benhsaien I, Mahlaoui N, Casanova JL, et al. Primary immunodeficiency diseases worldwide: more common than generally thought. J Clin Immunol 2013;33:1-7.
  2. The United States Immunodeficiency Network (USIDNET) [Internet]. Towson (MD): USIDNET; [cited 2019 June 27]. Available from: www.USIDNET.org.
  3. Registry Working Party ESID Registry [Internet]. Amsterdam (The Netherlands): European Society for Immunodeficiencies (ESID); [cited 2019 Oct 7]. Available from: https://esid.org/Working-Parties/RegistryWorking-Party/ESID-Registry.
  4. Ishimura M, Takada H, Doi T, Imai K, Sasahara Y, Kanegane H, et al. Nationwide survey of patients with primary immunodeficiency diseases in Japan. J Clin Immunol 2011;31:968-76. https://doi.org/10.1007/s10875-011-9594-7
  5. Kirkpatrick P, Riminton S. Primary immunodeficiency diseases in Australia and New Zealand. J Clin Immunol 2007;27:517-24. https://doi.org/10.1007/s10875-007-9105-z
  6. Modell V, Knaus M, Modell F, Roifman C, Orange J, Notarangelo LD. Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunol Res 2014;60:132-44. https://doi.org/10.1007/s12026-014-8498-z
  7. Espinosa-Rosales FJ, Condino-Neto A, Franco JL, Sorensen RU. Into action: improving access to optimum care for all primary immunodeficiency patients. J Clin Immunol 2016;36:415-7. https://doi.org/10.1007/s10875-016-0277-2
  8. Modell V, Orange JS, Quinn J, Modell F. Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician-reported outcomes. Immunol Res 2018;66:367-80. https://doi.org/10.1007/s12026-018-8996-5
  9. World Population Prospects: United Nations Department of Economic and Social Affairs (UN DESA). New York: United Nations; [cited 2017 June 21]. Available from: https://www.un.org/development/desa/publications/world-population-prospects-the-2017-revision.html.
  10. Rhim JW, Kim KH, Kim DS, Kim BS, Kim JS, Kim CH, et al. Prevalence of primary immunodeficiency in Korea. J Korean Med Sci 2012;27:788-93. https://doi.org/10.3346/jkms.2012.27.7.788
  11. Bousfiha A, Jeddane L, Picard C, Ailal F, Bobby Gaspar H, Al-Herz W, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J Clin Immunol 2018;38:129-43. https://doi.org/10.1007/s10875-017-0465-8
  12. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med 2014;211:2137-49. https://doi.org/10.1084/jem.20140520
  13. Meyts I, Bosch B, Bolze A, Boisson B, Itan Y, Belkadi A, et al. Exome and genome sequencing for inborn errors of immunity. J Allergy Clin Immunol 2016;138:957-69. https://doi.org/10.1016/j.jaci.2016.08.003
  14. Al-Mousa H, Abouelhoda M, Monies DM, Al-Tassan N, Al-Ghonaium A, Al-Saud B, et al. Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol 2016;137:1780-7. https://doi.org/10.1016/j.jaci.2015.12.1310
  15. Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, et al. Lentiviral gene therapy combined with low-dose busulfan in infants with SCID-X1. N Engl J Med 2019;380:1525-34. https://doi.org/10.1056/NEJMoa1815408
  16. Fischer A, Hacein-Bey Abina S, Touzot F, Cavazzana M. Gene therapy for primary immunodeficiencies. Clin Genet 2015;88:507-15. https://doi.org/10.1111/cge.12576
  17. Press release: the nobel prize in physiology or medicine 2018, a new principle for immune therapy: The Nobel Foundation [Internet]. Stockholm (Sweden): The Nobel Foundation; c2020 [cited 2018 Oct 1]. Available from: https://www.nobelprize.org/prizes/medicine/2018/pressrelease/.
  18. Lee S, Moon JS, Lee CR, Kim HE, Baek SM, Hwang S, et al. Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4. J Allergy Clin Immunol 2016;137:327-30. https://doi.org/10.1016/j.jaci.2015.08.036
  19. Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Autoimmune disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science 2015;349:436-40. https://doi.org/10.1126/science.aaa1663
  20. Egg D, Schwab C, Gabrysch A, Arkwright PD, Cheesman E, Giulino-Roth L, et al. Increased risk for malignancies in 131 affected CTLA4 mutation carriers. Front Immunol 2018;9:2012. https://doi.org/10.3389/fimmu.2018.02012
  21. Impact of NIH Research: National Institutes of Health (NIH) [Internet]. Bethesda (MD): National Institutes of Health; [cited 2018 May 1]. Available from: https://www.nih.gov/about-nih/what-we-do/impact-nihresearch/our-society.
  22. Primary immunodeficiencies (2016-2017) [Internet]. Grantome: c2015; [cited 12019 Oct 10]. Available from: http://grantome.com/search?q=primary+immunodeficiencies.
  23. USIDNET (2016-2017) [Internet]. Grantome: c2015; [cited 2018 Month Day]. Available from: http://grantome.com/search?q=USIDNET.
  24. About USIDNET: US Immunodeficiency Network (USIDNET) [Internet]. Towson (MD): USIDNET; [cited 2019 Oct 6]. Available from: https://usidnet.org/.
  25. Survey of patients with primary immunodeficiency in Korea [Internet]. Cheongju (Korea): Korea Centers for Disease Control and Prevention (KCDC); [cited 2007 Sep 5]. Available from: http://www.cdc.go.kr/CDC/notice/CdcKrInfo0201.jsp?menuIds=HOME001-MNU1154-MNU0005-&fid=28&q_type=title&q_value=%EB%A9%B4%EC%97%AD%EA%B2%B0%ED%95%8D&cid=1188&pageNum=1.
  26. Yi ES, Choi YB, Lee NH, Lee JW, Sung KW, Koo HH, et al. Allogeneic hematopoietic cell transplantation in patients with primary immunodeficiencies in Korea: eleven-year experience in a single center. J Clin Immunol 2018;38:757-66. https://doi.org/10.1007/s10875-018-0542-7
  27. Lee JH, Sohn WY, Park HY, Hwang SJ, Seo WH, Kim SJ, et al. A clinical study of primary immunodeficiency disease in a single center in seoul from 1996 to 2004. Pediatr Allergy Respir Dis 2005;15:368-80.
  28. Ju HY, Kang HJ, Hong CR, Lee JW, Kim H, Song SH, et al. Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease. Korean J Pediatr 2016;59:S57-9. https://doi.org/10.3345/kjp.2016.59.11.S57
  29. Kim JS, Hwang J, Choi YH, Kim WS, Kim JG. A case of esophageal obstruction complicated in a patient with chronic granulomatous disease: esophageal obstruction in chronic granulomatous disease. Korean J Pediatr Infec Dis 2014;21:53-8. https://doi.org/10.14776/kjpid.2014.21.1.53
  30. Kim L, Kim JA, Kim S. A guide for the utilization of Health Insurance Review and Assessment Service National Patient Samples. Epidemiol Health 2014;36:e2014008.
  31. The Sixth Revision of the Korean Standard Classification of Diseases: Statistics Korea [Internet]. Daejeon (Korea): Statistics Korea; [cited 2010 Jul 13]. Available from: http://kostat.go.kr/portal/eng/news/3/index.board?bmode=read&aSeq=71706.
  32. Classification of Disease (ICD) [Internet]. Geneva (Switzerland): World Health Organization; [cited 2019 Oct 10]. Available from: https://www.who.int/classifications/icd/icdonlineversions/en/.

피인용 문헌

  1. Needs for Increased Awareness of Gastrointestinal Manifestations in Patients With Human Inborn Errors of Immunity vol.12, 2021, https://doi.org/10.3389/fimmu.2021.698721