Journal of Korean Medical Science

Korean Acad Medical Sciences (대한의학회)
권호 표지
DOI QR코드

DOI QR Code

Prevalence of Primary Immunodeficiency in Korea

  • Rhim, Jung Woo (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Kim, Kyung Hyo (Department of Pediatrics, Ewha Woman's University College of Medicine) ;
  • Kim, Dong Soo (Department of Pediatrics, Yonsei University College of Medicine, Severance Children's Hospital) ;
  • Kim, Bong Seong (Department of Pediatrics, Gangneung Asan Hospital, College of Medicine, University of Ulsan) ;
  • Kim, Jung Soo (Department of Pediatrics, Chonbuk National University College of Medicine) ;
  • Kim, Chang Hwi (Department of Pediatrics, Soonchunhyang University College of Medicine) ;
  • Kim, Hwang Min (Department of Pediatrics, Yonsei University, Wonju College of Medicine) ;
  • Park, Hee Ju (Department of Pediatrics, Pusan National University College of Medicine) ;
  • Pai, Ki Soo (Department of Pediatrics, Ajou University College of Medicine) ;
  • Son, Byong Kwan (Department of Pediatrics, Inha University College of Medicine) ;
  • Shin, Kyung Sue (Department of Pediatrics, Cheju National University College of Medicine) ;
  • Oh, Moo Young (Department of Pediatrics, Inje University College of Medicine) ;
  • Woo, Young Jong (Department of Pediatrics, Chonnam National University Medical School) ;
  • Yoo, Young (Department of Pediatrics, Korea University College of Medicine) ;
  • Lee, Kun Soo (Department of Pediatrics, Kyungpook National University College of Medicine) ;
  • Lee, Kyung Yil (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Lee, Chong Guk (Department of Pediatrics, Inje University College of Medicine) ;
  • Lee, Joon Sung (Department of Pediatrics, College of Medicine, The Catholic University of Korea) ;
  • Chung, Eun Hee (Department of Pediatrics, Dankook University College of Medicine) ;
  • Choi, Eun Hwa (Department of Pediatrics, Seoul National University College of Medicine) ;
  • Hahn, Youn Soo (Department of Pediatrics, Chungbuk National University College of Medicine) ;
  • Park, Hyun Young (Division of Cardiovascular and Rare Disease, National Institute of Health, Korea Centers for Disease Control and Prevention) ;
  • Kim, Joong Gon (Department of Pediatrics, Seoul National University College of Medicine)
  • Published : 2012.07.10
⟨ Previous Next ⟩

Abstract

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Keywords

References

  1. Primary immunodeficiency diseases: report of a WHO scientific group. Clin Exp Immunol 1995; 99: 1-24.
  2. Gathmann B, Grimbacher B, Beauté J, Dudoit Y, Mahlaoui N, Fischer A, Knerr V, Kindle G; ESID Registry Working Party. The European internetbased patient and research database for primary immunodeficiencies: results 2006-2008. Clin Exp Immunol 2009; 157: 3-11. https://doi.org/10.1111/j.1365-2249.2009.03954.x
  3. International Union of Immunological Societies Expert Committee on Primary Immunodeficiencies, Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, et al. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol 2009; 124: 1161-78. https://doi.org/10.1016/j.jaci.2009.10.013
  4. Hayakawa H, Iwata T, Yata J, Kobayashi N. Primary immunodeficiency syndrome in Japan. I. Overview of a nationwide survey on primary immunodeficiency syndrome. J Clin Immunol 1981; 1: 31-9. https://doi.org/10.1007/BF00915474
  5. Lee WI, Kuo ML, Huang JL, Lin SJ, Wu CJ. Distribution and clinical aspects of primary immunodeficiencies in a Taiwan pediatric tertiary hospital during a 20-year period. J Clin Immunol 2005; 25: 162-73. https://doi.org/10.1007/s10875-005-2822-2
  6. Lim DL, Thong BY, Ho SY, Shek LP, Lou J, Leong KP, Chng HH, Lee BW. Primary immunodeficiency diseases in Singapore: the last 11 years. Singapore Med J 2003; 44: 579-86.
  7. Lam DS, Lee TL, Chan KW, Ho HK, Lau YL. Primary immunodeficiency in Hong Kong and the use of genetic analysis for diagnosis. Hong Kong Med J 2005; 11: 90-6.
  8. 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
  9. Stray-Pedersen A, Abrahamsen TG, Froland SS. Primary immunodeficiency diseases in Norway. J Clin Immunol 2000; 20: 477-85. https://doi.org/10.1023/A:1026416017763
  10. Matamoros Flori N, Mila Llambi J, Espanol Boren T, Raga Borja S, Fontan Casariego G. Primary immunodeficiency syndrome in Spain: first report of the National Registry in Children and Adults. J Clin Immunol 1997; 17: 333-9. https://doi.org/10.1023/A:1027382916924
  11. Gooi HC. Primary immunodeficiency register, United Kingdom: update 1992. Immunodeficiency 1993; 4: 191-2.
  12. Affentranger P, Morell A, Spath P, Seger R. Registry of primary immunodeficiencies in Switzerland. Immunodeficiency 1993; 4: 193-5.
  13. Boyle JM, Buckley RH. Population prevalence of diagnosed primary immunodeficiency diseases in the United States. J Clin Immunol 2007; 27: 497-502. https://doi.org/10.1007/s10875-007-9103-1
  14. Abuzakouk M, Feighery C. Primary immunodeficiency disorders in the Republic of Ireland: first report of the national registry in children and adults. J Clin Immunol 2005; 25: 73-7. https://doi.org/10.1007/s10875-005-0360-9
  15. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, et al. Primary immunodeficiency diseases: an update from the International union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol 2007; 120: 776-94. https://doi.org/10.1016/j.jaci.2007.08.053
  16. Rosen FS, Cooper MD, Wedgwood RJ. The primary immunodeficiencies. N Engl J Med 1995; 333: 431-40. https://doi.org/10.1056/NEJM199508173330707
  17. Conley ME. Genetics of primary immunodeficiency disease. Rev Immunogenet 2000; 2: 231-42.

Cited by

  1. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin vol.174, pp.2, 2012, https://doi.org/10.1111/cei.12178
  2. Spectrum of primary immunodeficiency disorders in Sri Lanka vol.9, pp.1, 2013, https://doi.org/10.1186/1710-1492-9-50
  3. Primary Immunodeficiency Diseases at Reference and High-Specialty Hospitals in the State of Guanajuato, Mexico vol.2013, pp.None, 2012, https://doi.org/10.1155/2013/187254
  4. Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center vol.33, pp.4, 2013, https://doi.org/10.1007/s10875-013-9865-6
  5. Chronic Granulomatous Disease on Jeju Island, Korea vol.10, pp.1, 2012, https://doi.org/10.5734/jgm.2013.10.1.1
  6. Caucasian Origin of Disease Associated HLA Haplotypes in Chinese Blood Donors with IgA Deficiency vol.34, pp.2, 2012, https://doi.org/10.1007/s10875-013-9983-1
  7. Effective Treatment of Intractable Diarrhea Associated with Common Variable Immunodeficiency with Oral Budesonide vol.86, pp.5, 2012, https://doi.org/10.3904/kjm.2014.86.5.637
  8. Primary Immunodeficiency Disorders in Iran: Update and New Insights from the Third Report of the National Registry vol.34, pp.4, 2012, https://doi.org/10.1007/s10875-014-0001-z
  9. Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988-2012) vol.35, pp.8, 2015, https://doi.org/10.1007/s10875-015-0206-9
  10. DiGeorge syndrome who developed lymphoproliferative mediastinal mass vol.58, pp.3, 2012, https://doi.org/10.3345/kjp.2015.58.3.108
  11. Long-term outcome of patients with p22phox-deficient chronic granulomatous disease on Jeju Island, Korea vol.58, pp.4, 2012, https://doi.org/10.3345/kjp.2015.58.4.129
  12. A case of CHARGE syndrome featuring immunodeficiency and hypocalcemia vol.12, pp.1, 2012, https://doi.org/10.5734/jgm.2015.12.1.57
  13. The Incidence and Prevalence of Common Variable Immunodeficiency Disease in Taiwan, A Population-Based Study vol.10, pp.10, 2015, https://doi.org/10.1371/journal.pone.0140473
  14. Gene mutations responsible for primary immunodeficiency disorders: A report from the first primary immunodeficiency biobank in Iran vol.12, pp.1, 2016, https://doi.org/10.1186/s13223-016-0166-5
  15. Primary immunodeficiency: common variable immunodeficiency vol.1, pp.39, 2012, https://doi.org/10.23950/1812-2892-2016-1-16-19
  16. Concomitant use of corticosteroid and antimicrobials for liver abscesses in patients with chronic granulomatous disease vol.59, pp.4, 2012, https://doi.org/10.3345/kjp.2016.59.4.196
  17. A novel BTK gene mutation, c.82delC (p.Arg28 Alafs*5), in a Korean family with X-linked agammaglobulinemia vol.59, pp.1, 2012, https://doi.org/10.3345/kjp.2016.59.11.s49
  18. The long and winding road to IgA deficiency: causes and consequences vol.13, pp.4, 2017, https://doi.org/10.1080/1744666x.2017.1248410
  19. Disease burden for patients with primary immunodeficiency diseases identified at reference hospitals in Guanajuato, Mexico vol.12, pp.4, 2012, https://doi.org/10.1371/journal.pone.0175867
  20. Agammaglobulinemia: comorbidities and long-term therapeutic risks vol.5, pp.7, 2012, https://doi.org/10.1080/21678707.2017.1330145
  21. The First Newborn Screening Study of T-Cell Receptor Excision Circle and κ-Deleting Recombination Excision Circle for Severe Combined Immunodeficiency in Korea: A Pilot Study vol.24, pp.3, 2012, https://doi.org/10.14776/piv.2017.24.3.134
  22. Efficacy and Safety of a New 10% Intravenous Immunoglobulin Product in Patients with Primary Immune Thrombocytopenia (ITP) vol.33, pp.19, 2012, https://doi.org/10.3346/jkms.2018.33.e142
  23. Targeted screening for primary immunodeficiency disorders in the neonatal period and early infancy vol.19, pp.1, 2012, https://doi.org/10.4314/ahs.v19i1.18
  24. Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience vol.12, pp.2, 2012, https://doi.org/10.4168/aair.2020.12.2.292
  25. Association between primary immunodeficiency and asthma exacerbation in adult asthmatics vol.35, pp.2, 2012, https://doi.org/10.3904/kjim.2018.413
  26. Genetic classification and confirmation of inherited platelet disorders: current status in Korea vol.63, pp.3, 2012, https://doi.org/10.3345/kjp.2019.00052
  27. Global systematic review of primary immunodeficiency registries vol.16, pp.7, 2020, https://doi.org/10.1080/1744666x.2020.1801422
  28. Systematic review of literature and analysis of big data from the National Health Insurance System on primary immunodeficiencies in Korea vol.64, pp.4, 2012, https://doi.org/10.3345/cep.2019.01347
  29. A single‐center pilot study in Malaysia on the clinical utility of whole‐exome sequencing for inborn errors of immunity vol.206, pp.2, 2012, https://doi.org/10.1111/cei.13626
  30. Survey of the management of patients with bronchiectasis: a pilot investigation in Asian populations vol.36, pp.6, 2012, https://doi.org/10.3904/kjim.2020.223