Article: 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

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TitleMolecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children
AuthorsLee, PPW2
Chan, KW2
Chen, TX15
Jiang, LP14
Wang, XC1
Zeng, HS3
Chen, XY3
Liew, WK5
Chen, J
Chu, KM2
Chan, LL9
Shek, L12
Lee, ACW13
Yu, HH10
Li, Q4
Xu, CG8
SultanUgdoracion, G7
Latiff, ZA11
Latiff, AHA6
Jirapongsananuruk, O16
Ho, MHK2
Lee, TL2
Yang, XQ14
Lau, YL2
KeywordsAsian
Chinese
genetics
molecular diagnosis
SCID
Severe combined immunodeficiency
Issue Date2011
PublisherSpringer New York LLC. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0271-9142
CitationJournal Of Clinical Immunology, 2011, v. 31 n. 2, p. 281-296 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s10875-010-9489-z
AbstractSevere 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. © 2010 Springer Science+Business Media, LLC.
ISSN0271-9142
2011 Impact Factor: 3.077
2011 SCImago Journal Rankings: 0.355
DOIhttp://dx.doi.org/10.1007/s10875-010-9489-z
ISI Accession Number IDWOS:000291169900016
Funding AgencyGrant Number
Hong Kong Society
Funding Information:

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.

ReferencesReferences in Scopus
DC Field
Value
dc.contributor.authorLee, PPW
dc.contributor.authorChan, KW
dc.contributor.authorChen, TX
dc.contributor.authorJiang, LP
dc.contributor.authorWang, XC
dc.contributor.authorZeng, HS
dc.contributor.authorChen, XY
dc.contributor.authorLiew, WK
dc.contributor.authorChen, J
dc.contributor.authorChu, KM
dc.contributor.authorChan, LL
dc.contributor.authorShek, L
dc.contributor.authorLee, ACW
dc.contributor.authorYu, HH
dc.contributor.authorLi, Q
dc.contributor.authorXu, CG
dc.contributor.authorSultanUgdoracion, G
dc.contributor.authorLatiff, ZA
dc.contributor.authorLatiff, AHA
dc.contributor.authorJirapongsananuruk, O
dc.contributor.authorHo, MHK
dc.contributor.authorLee, TL
dc.contributor.authorYang, XQ
dc.contributor.authorLau, YL
dc.date.accessioned2012-07-16T09:48:34Z
dc.date.available2012-07-16T09:48:34Z
dc.date.issued2011
dc.description.abstractSevere 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. © 2010 Springer Science+Business Media, LLC.
dc.description.natureLink_to_subscribed_fulltext
dc.identifier.citationJournal Of Clinical Immunology, 2011, v. 31 n. 2, p. 281-296 [How to Cite?]
DOI: http://dx.doi.org/10.1007/s10875-010-9489-z
dc.identifier.citeulike8636703
dc.identifier.doihttp://dx.doi.org/10.1007/s10875-010-9489-z
dc.identifier.epage296
dc.identifier.hkuros200687
dc.identifier.hkuros187711
dc.identifier.isiWOS:000291169900016
Funding AgencyGrant Number
Hong Kong Society
Funding Information:

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.

dc.identifier.issn0271-9142
2011 Impact Factor: 3.077
2011 SCImago Journal Rankings: 0.355
dc.identifier.issue2
dc.identifier.pmid21184155
dc.identifier.scopuseid_2-s2.0-79959694621
dc.identifier.spage281
dc.identifier.urihttp://hdl.handle.net/10722/152788
dc.identifier.volume31
dc.languageeng
dc.publisherSpringer New York LLC. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0271-9142
dc.publisher.placeUnited States
dc.relation.ispartofJournal of Clinical Immunology
dc.relation.referencesReferences in Scopus
dc.subjectAsian
dc.subjectChinese
dc.subjectgenetics
dc.subjectmolecular diagnosis
dc.subjectSCID
dc.subjectSevere combined immunodeficiency
dc.titleMolecular diagnosis of severe combined immunodeficiency - Identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children
dc.typeArticle
Author Affiliations
  1. Shanghai Children's Medical Center
  2. The University of Hong Kong Li Ka Shing Faculty of Medicine
  3. Guangzhou Children's Hospital
  4. West China Hospital
  5. KK Children's Hospital
  6. Monash University Malaysia
  7. San Pedro Hosp.
  8. Sun Yat-Sen University
  9. University of Malaya Medical Centre
  10. National Taiwan University Hospital
  11. Faculty of Medicine - Universiti Kebangsaan Malaysia
  12. National University of Singapore
  13. Mount Elizabeth Medical Centre
  14. Chongqing University of Medical Sciences
  15. Shanghai Jiao Tong University School of Medicine
  16. Mahidol University