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Article: Signal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndrome

TitleSignal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndrome
Authors
KeywordsAbscess
Hyperimmunoglobulin E Syndrome
Job Syndrome
Pneumatocoele
Signal Transducer And Activator Of Transcription 3
Issue Date2009
PublisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp
Citation
Hong Kong Journal Of Paediatrics, 2009, v. 14 n. 1, p. 4-10 How to Cite?
AbstractThe autosomal dominant (AD) hyperimmunoglobulin E syndrome (HIES, Job syndrome) is a primary immunodeficiency with multiple systemic involvements. It is characterised by grossly raised serum immunoglobulin E (IgE) level with recurrent cutaneous and pulmonary infections, eczema, pneumatocoeles, dental and musculoskeletal problems. The occurrence of the classic triads, namely recurrent cold abscesses, pneumatocoele formation and raised serum immunoglobulin E should alert the clinicians on the diagnosis of HIES. Mutations in the signal transducer and activator of transcription 3 (STAT3) gene have been identified recently to be the cause of AD HIES. We report 3 patients with HIES, in whom 2 were found to have STAT3 gene mutations.
Persistent Identifierhttp://hdl.handle.net/10722/170411
ISSN
2015 Impact Factor: 0.194
2015 SCImago Journal Rankings: 0.123
References

 

DC FieldValueLanguage
dc.contributor.authorTang, IMSen_US
dc.contributor.authorLee, TLen_US
dc.contributor.authorChan, KWen_US
dc.contributor.authorHo, MHKen_US
dc.contributor.authorLee, PPWen_US
dc.contributor.authorLeung, TNHen_US
dc.contributor.authorLau, YLen_US
dc.date.accessioned2012-10-30T06:08:15Z-
dc.date.available2012-10-30T06:08:15Z-
dc.date.issued2009en_US
dc.identifier.citationHong Kong Journal Of Paediatrics, 2009, v. 14 n. 1, p. 4-10en_US
dc.identifier.issn1013-9923en_US
dc.identifier.urihttp://hdl.handle.net/10722/170411-
dc.description.abstractThe autosomal dominant (AD) hyperimmunoglobulin E syndrome (HIES, Job syndrome) is a primary immunodeficiency with multiple systemic involvements. It is characterised by grossly raised serum immunoglobulin E (IgE) level with recurrent cutaneous and pulmonary infections, eczema, pneumatocoeles, dental and musculoskeletal problems. The occurrence of the classic triads, namely recurrent cold abscesses, pneumatocoele formation and raised serum immunoglobulin E should alert the clinicians on the diagnosis of HIES. Mutations in the signal transducer and activator of transcription 3 (STAT3) gene have been identified recently to be the cause of AD HIES. We report 3 patients with HIES, in whom 2 were found to have STAT3 gene mutations.en_US
dc.languageengen_US
dc.publisherMedcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.aspen_US
dc.relation.ispartofHong Kong Journal of Paediatricsen_US
dc.subjectAbscessen_US
dc.subjectHyperimmunoglobulin E Syndromeen_US
dc.subjectJob Syndromeen_US
dc.subjectPneumatocoeleen_US
dc.subjectSignal Transducer And Activator Of Transcription 3en_US
dc.titleSignal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndromeen_US
dc.typeArticleen_US
dc.identifier.emailLee, PPW:ppwlee@hku.hken_US
dc.identifier.emailLau, YL:lauylung@hkucc.hku.hken_US
dc.identifier.authorityLee, PPW=rp00462en_US
dc.identifier.authorityLau, YL=rp00361en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.scopuseid_2-s2.0-59349113185en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-59349113185&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume14en_US
dc.identifier.issue1en_US
dc.identifier.spage4en_US
dc.identifier.epage10en_US
dc.publisher.placeHong Kongen_US
dc.identifier.scopusauthoridTang, IMS=26026181300en_US
dc.identifier.scopusauthoridLee, TL=24483772800en_US
dc.identifier.scopusauthoridChan, KW=8092248100en_US
dc.identifier.scopusauthoridHo, MHK=36554116300en_US
dc.identifier.scopusauthoridLee, PPW=14048822200en_US
dc.identifier.scopusauthoridLeung, TNH=13404282600en_US
dc.identifier.scopusauthoridLau, YL=7201403380en_US

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