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 JirapongsananurukMarco H K Ho, Tsz Leung Lee, Xi Qiang Yang, Yu Lung Lau

Research output: Contribution to journalArticle

24 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)281-296
Number of pages16
JournalJournal of Clinical Immunology
Volume31
Issue number2
DOIs
Publication statusPublished - Apr 2011

Fingerprint

Severe Combined Immunodeficiency
Mutation
Inheritance Patterns
Hematopoietic Stem Cell Transplantation
Research
Bacillus
Early Diagnosis
Immunity
B-Lymphocytes
Cohort Studies
Guidelines
Morbidity
T-Lymphocytes
Transplants
Phenotype
Population
Genes

Keywords

  • Asian
  • Chinese
  • genetics
  • molecular diagnosis
  • SCID
  • Severe combined immunodeficiency

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

Cite this

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

In: Journal of Clinical Immunology, Vol. 31, No. 2, 04.2011, p. 281-296.

Research output: Contribution to journalArticle

Lee, PPW, Chan, KW, Chen, TX, Jiang, LP, Wang, XC, Zeng, HS, Chen, XY, Liew, WK, Chen, J, Chu, KM, Chan, LL, Shek, L, Lee, ACW, Yu, HH, Li, Q, Xu, CG, Sultan-Ugdoracion, G, Abdul Latiff, Z, Latiff, AHA, Jirapongsananuruk, O, Ho, MHK, Lee, TL, Yang, XQ & Lau, YL 2011, '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', Journal of Clinical Immunology, vol. 31, no. 2, pp. 281-296. https://doi.org/10.1007/s10875-010-9489-z
Lee, Pamela P W ; Chan, Koon Wing ; Chen, Tong Xin ; Jiang, Li Ping ; Wang, Xiao Chuan ; Zeng, Hua Song ; Chen, Xiang Yuan ; Liew, Woei Kang ; Chen, Jing ; Chu, Kit Man ; Chan, Lee Lee ; Shek, Lynette ; Lee, Anselm C W ; Yu, Hsin Hui ; Li, Qiang ; Xu, Chen Guang ; Sultan-Ugdoracion, Geraldine ; Abdul Latiff, Zarina ; Latiff, Amir Hamzah Abdul ; Jirapongsananuruk, Orathai ; Ho, Marco H K ; Lee, Tsz Leung ; Yang, Xi Qiang ; Lau, Yu Lung. / 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. In: Journal of Clinical Immunology. 2011 ; Vol. 31, No. 2. pp. 281-296.
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T1 - 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

AU - Lee, Pamela P W

AU - Chan, Koon Wing

AU - Chen, Tong Xin

AU - Jiang, Li Ping

AU - Wang, Xiao Chuan

AU - Zeng, Hua Song

AU - Chen, Xiang Yuan

AU - Liew, Woei Kang

AU - Chen, Jing

AU - Chu, Kit Man

AU - Chan, Lee Lee

AU - Shek, Lynette

AU - Lee, Anselm C W

AU - Yu, Hsin Hui

AU - Li, Qiang

AU - Xu, Chen Guang

AU - Sultan-Ugdoracion, Geraldine

AU - Abdul Latiff, Zarina

AU - Latiff, Amir Hamzah Abdul

AU - Jirapongsananuruk, Orathai

AU - Ho, Marco H K

AU - Lee, Tsz Leung

AU - Yang, Xi Qiang

AU - Lau, Yu Lung

PY - 2011/4

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N2 - 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.

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KW - Asian

KW - Chinese

KW - genetics

KW - molecular diagnosis

KW - SCID

KW - Severe combined immunodeficiency

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