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Article: Signal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndrome
Title | Signal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndrome |
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Authors | |
Keywords | Abscess Hyperimmunoglobulin E Syndrome Job Syndrome Pneumatocoele Signal Transducer And Activator Of Transcription 3 |
Issue Date | 2009 |
Publisher | Medcom 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? |
Abstract | The 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 Identifier | http://hdl.handle.net/10722/170411 |
ISSN | 2023 Impact Factor: 0.1 2023 SCImago Journal Rankings: 0.117 |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Tang, IMS | en_US |
dc.contributor.author | Lee, TL | en_US |
dc.contributor.author | Chan, KW | en_US |
dc.contributor.author | Ho, MHK | en_US |
dc.contributor.author | Lee, PPW | en_US |
dc.contributor.author | Leung, TNH | en_US |
dc.contributor.author | Lau, YL | en_US |
dc.date.accessioned | 2012-10-30T06:08:15Z | - |
dc.date.available | 2012-10-30T06:08:15Z | - |
dc.date.issued | 2009 | en_US |
dc.identifier.citation | Hong Kong Journal Of Paediatrics, 2009, v. 14 n. 1, p. 4-10 | en_US |
dc.identifier.issn | 1013-9923 | en_US |
dc.identifier.uri | http://hdl.handle.net/10722/170411 | - |
dc.description.abstract | The 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.language | eng | en_US |
dc.publisher | Medcom Limited. The Journal's web site is located at http://www.hkjpaed.org/index.asp | en_US |
dc.relation.ispartof | Hong Kong Journal of Paediatrics | en_US |
dc.subject | Abscess | en_US |
dc.subject | Hyperimmunoglobulin E Syndrome | en_US |
dc.subject | Job Syndrome | en_US |
dc.subject | Pneumatocoele | en_US |
dc.subject | Signal Transducer And Activator Of Transcription 3 | en_US |
dc.title | Signal transducer and activator of transcription 3 (STAT3) gene mutations in two patients with hyperimmunoglobulin E syndrome | en_US |
dc.type | Article | en_US |
dc.identifier.email | Lee, PPW:ppwlee@hku.hk | en_US |
dc.identifier.email | Lau, YL:lauylung@hkucc.hku.hk | en_US |
dc.identifier.authority | Lee, PPW=rp00462 | en_US |
dc.identifier.authority | Lau, YL=rp00361 | en_US |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.scopus | eid_2-s2.0-59349113185 | en_US |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-59349113185&selection=ref&src=s&origin=recordpage | en_US |
dc.identifier.volume | 14 | en_US |
dc.identifier.issue | 1 | en_US |
dc.identifier.spage | 4 | en_US |
dc.identifier.epage | 10 | en_US |
dc.publisher.place | Hong Kong | en_US |
dc.identifier.scopusauthorid | Tang, IMS=26026181300 | en_US |
dc.identifier.scopusauthorid | Lee, TL=24483772800 | en_US |
dc.identifier.scopusauthorid | Chan, KW=8092248100 | en_US |
dc.identifier.scopusauthorid | Ho, MHK=36554116300 | en_US |
dc.identifier.scopusauthorid | Lee, PPW=14048822200 | en_US |
dc.identifier.scopusauthorid | Leung, TNH=13404282600 | en_US |
dc.identifier.scopusauthorid | Lau, YL=7201403380 | en_US |
dc.identifier.issnl | 1013-9923 | - |