File Download
 
Links for fulltext
(May Require Subscription)
 
Supplementary

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
  • Basic View
  • Metadata View
  • XML View
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, TX16
Jiang, LP15
Wang, XC1
Zeng, HS3
Chen, XY3
Liew, WK5
Chen, J1
Chu, KM2
Chan, LL9
Shek, L12
Lee, ACW13
Yu, HH10
Li, Q4
Xu, CG8
SultanUgdoracion, G6
Latiff, ZA11
Latiff, AHA7
Jirapongsananuruk, O14
Ho, MHK2
Lee, TL2
Yang, XQ15
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
2012 Impact Factor: 3.382
2012 SCImago Journal Rankings: 1.218
 
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 FieldValue
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
2012 Impact Factor: 3.382
2012 SCImago Journal Rankings: 1.218
 
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
 
<?xml encoding="utf-8" version="1.0"?>
<item><contributor.author>Lee, PPW</contributor.author>
<contributor.author>Chan, KW</contributor.author>
<contributor.author>Chen, TX</contributor.author>
<contributor.author>Jiang, LP</contributor.author>
<contributor.author>Wang, XC</contributor.author>
<contributor.author>Zeng, HS</contributor.author>
<contributor.author>Chen, XY</contributor.author>
<contributor.author>Liew, WK</contributor.author>
<contributor.author>Chen, J</contributor.author>
<contributor.author>Chu, KM</contributor.author>
<contributor.author>Chan, LL</contributor.author>
<contributor.author>Shek, L</contributor.author>
<contributor.author>Lee, ACW</contributor.author>
<contributor.author>Yu, HH</contributor.author>
<contributor.author>Li, Q</contributor.author>
<contributor.author>Xu, CG</contributor.author>
<contributor.author>SultanUgdoracion, G</contributor.author>
<contributor.author>Latiff, ZA</contributor.author>
<contributor.author>Latiff, AHA</contributor.author>
<contributor.author>Jirapongsananuruk, O</contributor.author>
<contributor.author>Ho, MHK</contributor.author>
<contributor.author>Lee, TL</contributor.author>
<contributor.author>Yang, XQ</contributor.author>
<contributor.author>Lau, YL</contributor.author>
<date.accessioned>2012-07-16T09:48:34Z</date.accessioned>
<date.available>2012-07-16T09:48:34Z</date.available>
<date.issued>2011</date.issued>
<identifier.citation>Journal Of Clinical Immunology, 2011, v. 31 n. 2, p. 281-296</identifier.citation>
<identifier.issn>0271-9142</identifier.issn>
<identifier.uri>http://hdl.handle.net/10722/152788</identifier.uri>
<description.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&apos;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-Gu&#233;rin 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. &#169; 2010 Springer Science+Business Media, LLC.</description.abstract>
<language>eng</language>
<publisher>Springer New York LLC. The Journal&apos;s web site is located at http://springerlink.metapress.com/openurl.asp?genre=journal&amp;issn=0271-9142</publisher>
<relation.ispartof>Journal of Clinical Immunology</relation.ispartof>
<subject>Asian</subject>
<subject>Chinese</subject>
<subject>genetics</subject>
<subject>molecular diagnosis</subject>
<subject>SCID</subject>
<subject>Severe combined immunodeficiency</subject>
<title>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</title>
<type>Article</type>
<description.nature>Link_to_subscribed_fulltext</description.nature>
<identifier.doi>10.1007/s10875-010-9489-z</identifier.doi>
<identifier.pmid>21184155</identifier.pmid>
<identifier.scopus>eid_2-s2.0-79959694621</identifier.scopus>
<identifier.hkuros>200687</identifier.hkuros>
<identifier.hkuros>187711</identifier.hkuros>
<relation.references>http://www.scopus.com/mlt/select.url?eid=2-s2.0-79959694621&amp;selection=ref&amp;src=s&amp;origin=recordpage</relation.references>
<identifier.volume>31</identifier.volume>
<identifier.issue>2</identifier.issue>
<identifier.spage>281</identifier.spage>
<identifier.epage>296</identifier.epage>
<identifier.isi>WOS:000291169900016</identifier.isi>
<publisher.place>United States</publisher.place>
<identifier.citeulike>8636703</identifier.citeulike>
</item>
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