Journal of Clinical Immunology

, Volume 31, Issue 2, pp 281–296 | Cite as

Molecular Diagnosis of Severe Combined Immunodeficiency—Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 Mutations in a Cohort of Chinese and Southeast Asian Children

  • Pamela P. W. Lee
  • Koon-Wing Chan
  • Tong-Xin Chen
  • Li-Ping Jiang
  • Xiao-Chuan Wang
  • Hua-Song Zeng
  • Xiang-Yuan Chen
  • Woei-Kang Liew
  • Jing Chen
  • Kit-Man Chu
  • Lee-Lee Chan
  • Lynette Shek
  • Anselm C. W. Lee
  • Hsin-Hui Yu
  • Qiang Li
  • Chen-Guang Xu
  • Geraldine Sultan-Ugdoracion
  • Zarina Abdul Latiff
  • Amir Hamzah Abdul Latiff
  • Orathai Jirapongsananuruk
  • Marco H. K. Ho
  • Tsz-Leung Lee
  • Xi-Qiang Yang
  • Yu-Lung Lau
Article

Abstract

Severe combined immunodeficiencies (SCID) are a group of rare inherited disorders with profound defects in T cell and B cell immunity. From 2005 to 2010, our unit performed testing for IL2RG, JAK3, IL7R, RAG1, RAG2, DCLRE1C, LIG4, AK2, and ZAP70 mutations in 42 Chinese and Southeast Asian infants with SCID adopting a candidate gene approach, based on patient’s gender, immune phenotype, and inheritance pattern. Mutations were identified in 26 patients, including IL2RG (n = 19), IL7R (n = 2), JAK3 (n = 2), RAG1 (n = 1), RAG2 (n = 1), and DCLRE1C (n = 1). Among 12 patients who underwent hematopoietic stem cell transplantation, eight patients survived. Complications and morbidities during transplant period were significant, especially disseminated bacillus Calmette–Guérin disease which was often difficult to control. This is the first cohort study on SCID in the Chinese and Southeast Asian population, based on a multi-centered collaborative research network. The foremost issue is service provision for early detection, diagnosis, management, and definitive treatment for patients with SCID. National management guidelines for SCID should be established, and research into an efficient platform for genetic diagnosis is needed.

Keyword

Severe combined immunodeficiency SCID molecular diagnosis genetics Chinese Asian 

Notes

Acknowledgment

The authors would like to thank the Hong Kong Society for the Relief of Disabled Children for funding the molecular testing of primary immunodeficiency disorders for our patients.

Supplementary material

10875_2010_9489_MOESM1_ESM.doc (90 kb)
ESM 1 (DOC 89.5 kb)

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Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Pamela P. W. Lee
    • 1
  • Koon-Wing Chan
    • 1
  • Tong-Xin Chen
    • 2
  • Li-Ping Jiang
    • 3
  • Xiao-Chuan Wang
    • 4
  • Hua-Song Zeng
    • 5
  • Xiang-Yuan Chen
    • 5
  • Woei-Kang Liew
    • 6
  • Jing Chen
    • 7
  • Kit-Man Chu
    • 1
  • Lee-Lee Chan
    • 8
  • Lynette Shek
    • 9
  • Anselm C. W. Lee
    • 10
  • Hsin-Hui Yu
    • 11
  • Qiang Li
    • 12
  • Chen-Guang Xu
    • 13
  • Geraldine Sultan-Ugdoracion
    • 14
  • Zarina Abdul Latiff
    • 15
  • Amir Hamzah Abdul Latiff
    • 16
  • Orathai Jirapongsananuruk
    • 17
  • Marco H. K. Ho
    • 1
  • Tsz-Leung Lee
    • 1
  • Xi-Qiang Yang
    • 3
  • Yu-Lung Lau
    • 1
  1. 1.Department of Paediatrics and Adolescent Medicine, LKS Faculty of MedicineThe University of Hong KongHong KongChina
  2. 2.Department of Pediatrics, Xinhua Hospital, Shanghai Institute for Pediatric ResearchShanghai Jiao Tong University School of MedicineShanghaiChina
  3. 3.Children’s Hospital of Chongqing Medical UniversityChongqingChina
  4. 4.Children’s Hospital of Fudan UniversityShanghaiChina
  5. 5.Department of Allergy, Immunology and RheumatologyGuangzhou Children’s HospitalGuangdongChina
  6. 6.Department of Paediatric MedicineKK Children’s HospitalSingaporeSingapore
  7. 7.Shanghai Children’s Medical CenterShanghaiChina
  8. 8.Department of PaediatricsUniversity Malaya Medical CentreKuala LumpurMalaysia
  9. 9.Department of PediatricsNational University of SingaporeSingaporeSingapore
  10. 10.Children’s Haematology & Cancer CentreMount Elizabeth HospitalSingaporeSingapore
  11. 11.Department of PediatricsNational Taiwan University HospitalTaipeiTaiwan
  12. 12.Department of Pediatric Hematology and Immunology, West China Second University HospitalSichuan UniversityChengduChina
  13. 13.The First Affiliated Hospital of Sun Yat-sen UniversityGuangzhouChina
  14. 14.Department of PediatricsSan Pedro HospitalDavao CityPhilippines
  15. 15.Department of Paediatrics, Faculty of MedicineUniversiti Kebangsaan Malaysia Medical CentreKuala LumpurMalaysia
  16. 16.Jeffrey Cheah School of Medicine and Health SciencesMonash UniversityKuala LumpurMalaysia
  17. 17.Department of PediatricsSiriraj Hospital Mahidol UniversityBangkokThailand

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