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Article: Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia

TitleClinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia
Authors
Issue Date2010
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, 2010, v. 30 n. 1, p. 121-131 How to Cite?
AbstractIntroduction: X-linked agammagobulinemia (XLA) is a primary immunodeficiency disorder caused by Bruton's tyrosine kinase (Btk) gene mutation. Recent studies suggested genotype-phenotype correlation in XLA, but a definitive association remains controversial. Patients and Methods: We examined the relationship between specific Btk gene mutations and severity of clinical presentation in 62 patients with XLA. Disease severity was assessed by the age of disease onset and the presence of severe infections, while mutations were classified into severe and mild based on structural and functional consequence by bioinformatics analysis. Results: Fifty-six Btk mutations were identified in 62 patients from 57 kindreds. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset as well as occurrence of severe infections. Conclusion: A critical analysis of the circumstances upon presentation also revealed that under-recognition of recurrent infections and relevant family history are important hurdles to timely diagnosis of XLA. © 2009 Springer Science+Business Media, LLC.
Persistent Identifierhttp://hdl.handle.net/10722/170433
ISSN
2015 Impact Factor: 3.094
2015 SCImago Journal Rankings: 1.332
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLee, PPWen_US
dc.contributor.authorChen, TXen_US
dc.contributor.authorJiang, LPen_US
dc.contributor.authorChan, KWen_US
dc.contributor.authorYang, Wen_US
dc.contributor.authorLee, BWen_US
dc.contributor.authorChiang, WCen_US
dc.contributor.authorChen, XYen_US
dc.contributor.authorFok, SFSen_US
dc.contributor.authorLee, TLen_US
dc.contributor.authorHo, MHKen_US
dc.contributor.authorYang, XQen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2012-10-30T06:08:31Z-
dc.date.available2012-10-30T06:08:31Z-
dc.date.issued2010en_US
dc.identifier.citationJournal Of Clinical Immunology, 2010, v. 30 n. 1, p. 121-131en_US
dc.identifier.issn0271-9142en_US
dc.identifier.urihttp://hdl.handle.net/10722/170433-
dc.description.abstractIntroduction: X-linked agammagobulinemia (XLA) is a primary immunodeficiency disorder caused by Bruton's tyrosine kinase (Btk) gene mutation. Recent studies suggested genotype-phenotype correlation in XLA, but a definitive association remains controversial. Patients and Methods: We examined the relationship between specific Btk gene mutations and severity of clinical presentation in 62 patients with XLA. Disease severity was assessed by the age of disease onset and the presence of severe infections, while mutations were classified into severe and mild based on structural and functional consequence by bioinformatics analysis. Results: Fifty-six Btk mutations were identified in 62 patients from 57 kindreds. Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset as well as occurrence of severe infections. Conclusion: A critical analysis of the circumstances upon presentation also revealed that under-recognition of recurrent infections and relevant family history are important hurdles to timely diagnosis of XLA. © 2009 Springer Science+Business Media, LLC.en_US
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_US
dc.relation.ispartofJournal of Clinical Immunologyen_US
dc.subject.meshAgammaglobulinemiaen_US
dc.subject.meshAge Of Onseten_US
dc.subject.meshChilden_US
dc.subject.meshChild, Preschoolen_US
dc.subject.meshChinaen_US
dc.subject.meshDna Mutational Analysisen_US
dc.subject.meshDisease Progressionen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenetic Association Studiesen_US
dc.subject.meshGenetic Predisposition To Diseaseen_US
dc.subject.meshHumansen_US
dc.subject.meshInfanten_US
dc.subject.meshInfection - Diagnosis - Epidemiology - Genetics - Physiopathologyen_US
dc.subject.meshMaleen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshPolymorphism, Geneticen_US
dc.subject.meshProtein-Tyrosine Kinases - Genetics - Immunologyen_US
dc.subject.meshX-Linked Combined Immunodeficiency Diseases - Diagnosis - Epidemiology - Genetics - Physiopathologyen_US
dc.titleClinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemiaen_US
dc.typeArticleen_US
dc.identifier.emailLee, PPW:ppwlee@hku.hken_US
dc.identifier.emailYang, W:yangwl@hkucc.hku.hken_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLee, PPW=rp00462en_US
dc.identifier.authorityYang, W=rp00524en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1007/s10875-009-9341-5en_US
dc.identifier.pmid19904586-
dc.identifier.scopuseid_2-s2.0-77249130675en_US
dc.identifier.hkuros170370-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-77249130675&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume30en_US
dc.identifier.issue1en_US
dc.identifier.spage121en_US
dc.identifier.epage131en_US
dc.identifier.isiWOS:000274521300016-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridLee, PPW=14048822200en_US
dc.identifier.scopusauthoridChen, TX=35285506000en_US
dc.identifier.scopusauthoridJiang, LP=35285772300en_US
dc.identifier.scopusauthoridChan, KW=8587755300en_US
dc.identifier.scopusauthoridYang, W=23101349500en_US
dc.identifier.scopusauthoridLee, BW=7405437980en_US
dc.identifier.scopusauthoridChiang, WC=15759097200en_US
dc.identifier.scopusauthoridChen, XY=35195524300en_US
dc.identifier.scopusauthoridFok, SFS=7005182792en_US
dc.identifier.scopusauthoridLee, TL=8508917400en_US
dc.identifier.scopusauthoridHo, MHK=8925896400en_US
dc.identifier.scopusauthoridYang, XQ=13606095400en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US
dc.identifier.citeulike6226817-

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