File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Clinical and molecular characteristics of 35 chinese children with wiskott-aldrich syndrome

TitleClinical and molecular characteristics of 35 chinese children with wiskott-aldrich syndrome
Authors
KeywordsChinese
immunodeficiency
transplant
WASP
Wiskott-aldrich syndrome
Issue Date2009
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, 2009, v. 29 n. 4, p. 490-500 How to Cite?
AbstractBackground: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. Objectives: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). Materials and Method: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. Results: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n∈=∈5; mismatched related donor, n∈=∈2; matched-sibling donor, n∈=∈2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. Conclusion: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities. © 2009 Springer Science+Business Media, LLC.
Persistent Identifierhttp://hdl.handle.net/10722/59529
ISSN
2015 Impact Factor: 3.094
2015 SCImago Journal Rankings: 1.332
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLee, PPWen_HK
dc.contributor.authorChen, TXen_HK
dc.contributor.authorJiang, LPen_HK
dc.contributor.authorChen, Jen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorLee, TLen_HK
dc.contributor.authorHo, MHKen_HK
dc.contributor.authorNong, SHen_HK
dc.contributor.authorYang, Yen_HK
dc.contributor.authorFang, YJen_HK
dc.contributor.authorLi, Qen_HK
dc.contributor.authorWang, XCen_HK
dc.contributor.authorYang, XQen_HK
dc.contributor.authorLau, YLen_HK
dc.date.accessioned2010-05-31T03:52:04Z-
dc.date.available2010-05-31T03:52:04Z-
dc.date.issued2009en_HK
dc.identifier.citationJournal Of Clinical Immunology, 2009, v. 29 n. 4, p. 490-500en_HK
dc.identifier.issn0271-9142en_HK
dc.identifier.urihttp://hdl.handle.net/10722/59529-
dc.description.abstractBackground: Wiskott-Aldrich syndrome (WAS) is a rare primary immunodeficiency disease, with an incidence of 4/1,000,000 live male births. In China, an estimated number of 35 babies with WAS are born each year, but likely many remain undiagnosed. Objectives: The objectives of study were to review the clinical and molecular characteristics of a cohort of Chinese children with WAS and to describe the long-term outcome of those who underwent hematopoietic stem cell transplant (HSCT). Materials and Method: Records of 35 patients diagnosed with WAS during 1991-2008 were reviewed. Genetic diagnosis was established by direct gene sequencing. Results: All patients had classical WAS phenotype. WASP mutations were identified in 33 patients from 29 families. Nine patients underwent HSCT at a mean age of 22.1 months (match-unrelated donor, n∈=∈5; mismatched related donor, n∈=∈2; matched-sibling donor, n∈=∈2). Post-transplant immune hemolytic anemia and thrombocytopenia occurred in three patients with complete resolution. All patients survived without significant long-term complications and had full platelet, T and B lymphocyte recovery within 2 years post-transplant. Conclusion: In the past decade, there has been significant improvement in clinical and genetic diagnosis of WAS in Chinese. We demonstrated excellent long-term survival in patients who underwent HSCT. Early workup for transplant should be advocated for children with classical WAS before they suffer from major disease complications and morbidities. © 2009 Springer Science+Business Media, LLC.en_HK
dc.languageengen_HK
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.subjectChineseen_HK
dc.subjectimmunodeficiencyen_HK
dc.subjecttransplanten_HK
dc.subjectWASPen_HK
dc.subjectWiskott-aldrich syndromeen_HK
dc.titleClinical and molecular characteristics of 35 chinese children with wiskott-aldrich syndromeen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0271-9142&volume=29&issue=4&spage=490&epage=500&date=2009&atitle=Clinical+and+Molecular+Characteristics+of+35+Chinese+Children+with+Wiskott-Aldrich+Syndromeen_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/s10875-009-9285-9en_HK
dc.identifier.pmid19308710en_HK
dc.identifier.scopuseid_2-s2.0-67651243721en_HK
dc.identifier.hkuros157635en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-67651243721&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume29en_HK
dc.identifier.issue4en_HK
dc.identifier.spage490en_HK
dc.identifier.epage500en_HK
dc.identifier.isiWOS:000267394100011-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridLee, PPW=14048822200en_HK
dc.identifier.scopusauthoridChen, TX=35285506000en_HK
dc.identifier.scopusauthoridJiang, LP=35285772300en_HK
dc.identifier.scopusauthoridChen, J=7501884785en_HK
dc.identifier.scopusauthoridChan, KW=8587755300en_HK
dc.identifier.scopusauthoridLee, TL=24483772800en_HK
dc.identifier.scopusauthoridHo, MHK=8925896400en_HK
dc.identifier.scopusauthoridNong, SH=6602283154en_HK
dc.identifier.scopusauthoridYang, Y=35286280000en_HK
dc.identifier.scopusauthoridFang, YJ=35975804600en_HK
dc.identifier.scopusauthoridLi, Q=36072924100en_HK
dc.identifier.scopusauthoridWang, XC=23037255400en_HK
dc.identifier.scopusauthoridYang, XQ=13606095400en_HK
dc.identifier.scopusauthoridLau, YL=7201403380en_HK
dc.identifier.citeulike4226377-

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats