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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

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
Authors
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
Citation
Journal Of Clinical Immunology, 2011, v. 31 n. 2, p. 281-296 How to Cite?
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. © 2010 Springer Science+Business Media, LLC.
Persistent Identifierhttp://hdl.handle.net/10722/152788
ISSN
2013 Impact Factor: 2.654
ISI Accession Number ID
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.

References

 

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. San Pedro Hospital
  7. Monash University Malaysia
  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. Mahidol University
  15. Chongqing University of Medical Sciences
  16. Shanghai Jiao Tong University School of Medicine
DC FieldValueLanguage
dc.contributor.authorLee, PPWen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorChen, TXen_HK
dc.contributor.authorJiang, LPen_HK
dc.contributor.authorWang, XCen_HK
dc.contributor.authorZeng, HSen_HK
dc.contributor.authorChen, XYen_HK
dc.contributor.authorLiew, WKen_HK
dc.contributor.authorChen, Jen_HK
dc.contributor.authorChu, KMen_HK
dc.contributor.authorChan, LLen_HK
dc.contributor.authorShek, Len_HK
dc.contributor.authorLee, ACWen_HK
dc.contributor.authorYu, HHen_HK
dc.contributor.authorLi, Qen_HK
dc.contributor.authorXu, CGen_HK
dc.contributor.authorSultanUgdoracion, Gen_HK
dc.contributor.authorLatiff, ZAen_HK
dc.contributor.authorLatiff, AHAen_HK
dc.contributor.authorJirapongsananuruk, Oen_HK
dc.contributor.authorHo, MHKen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorYang, XQen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2012-07-16T09:48:34Z-
dc.date.available2012-07-16T09:48:34Z-
dc.date.issued2011en_HK
dc.identifier.citationJournal Of Clinical Immunology, 2011, v. 31 n. 2, p. 281-296en_HK
dc.identifier.issn0271-9142en_HK
dc.identifier.urihttp://hdl.handle.net/10722/152788-
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.en_HK
dc.languageengen_US
dc.publisherSpringer New York LLC. The Journal's web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&issn=0271-9142en_HK
dc.relation.ispartofJournal of Clinical Immunologyen_HK
dc.subjectAsianen_HK
dc.subjectChineseen_HK
dc.subjectgeneticsen_HK
dc.subjectmolecular diagnosisen_HK
dc.subjectSCIDen_HK
dc.subjectSevere combined immunodeficiencyen_HK
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 childrenen_HK
dc.typeArticleen_HK
dc.identifier.emailLee, PPW:ppwlee@hku.hken_HK
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_HK
dc.identifier.authorityLee, PPW=rp00462en_HK
dc.identifier.authorityLau, YL=rp00361en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1007/s10875-010-9489-zen_HK
dc.identifier.pmid21184155en_HK
dc.identifier.scopuseid_2-s2.0-79959694621en_HK
dc.identifier.hkuros200687en_US
dc.identifier.hkuros187711-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79959694621&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume31en_HK
dc.identifier.issue2en_HK
dc.identifier.spage281en_HK
dc.identifier.epage296en_HK
dc.identifier.isiWOS:000291169900016-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLee, PPW=14048822200en_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridChen, TX=48660911300en_HK
dc.identifier.scopusauthoridJiang, LP=35285772300en_HK
dc.identifier.scopusauthoridWang, XC=53364795900en_HK
dc.identifier.scopusauthoridZeng, HS=53364836500en_HK
dc.identifier.scopusauthoridChen, XY=35195524300en_HK
dc.identifier.scopusauthoridLiew, WK=15760259400en_HK
dc.identifier.scopusauthoridChen, J=10243846600en_HK
dc.identifier.scopusauthoridChu, KM=7402452751en_HK
dc.identifier.scopusauthoridChan, LL=7403540513en_HK
dc.identifier.scopusauthoridShek, L=6701736299en_HK
dc.identifier.scopusauthoridLee, ACW=7405631431en_HK
dc.identifier.scopusauthoridYu, HH=12902763700en_HK
dc.identifier.scopusauthoridLi, Q=36072924100en_HK
dc.identifier.scopusauthoridXu, CG=53364672400en_HK
dc.identifier.scopusauthoridSultanUgdoracion, G=36683177300en_HK
dc.identifier.scopusauthoridLatiff, ZA=6507955189en_HK
dc.identifier.scopusauthoridLatiff, AHA=36909177900en_HK
dc.identifier.scopusauthoridJirapongsananuruk, O=6602458717en_HK
dc.identifier.scopusauthoridHo, MHK=8925896400en_HK
dc.identifier.scopusauthoridLee, TL=35573927500en_HK
dc.identifier.scopusauthoridYang, XQ=35286077100en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.citeulike8636703-

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