A case of hyper-IgE syndrome with a mutation of the STAT3 gene
DC Field | Value | Language |
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dc.contributor.author | Kang, J. | - |
dc.contributor.author | Suh, J. | - |
dc.contributor.author | Kim, J. | - |
dc.contributor.author | Kim, H.-J. | - |
dc.contributor.author | Kim, Y.-J. | - |
dc.contributor.author | Lee, H.S. | - |
dc.contributor.author | Shin, Y.K. | - |
dc.contributor.author | Ahn, K. | - |
dc.contributor.author | Lee, S.-I. | - |
dc.date.accessioned | 2021-06-18T12:44:13Z | - |
dc.date.available | 2021-06-18T12:44:13Z | - |
dc.date.issued | 2010 | - |
dc.identifier.issn | 1738-1061 | - |
dc.identifier.issn | 2092-7258 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/46886 | - |
dc.description.abstract | Hyperimmunoglobulin E syndrome (HIES) is a rare immunodeficiency disease which is characterized by high serum IgE levels, eczema, and recurrent infections. Herein we present the case of a patient with HIES associated with STAT3 gene (stat3) mutation. A 16 year-old girl was admitted to our hospital due to hemoptysis caused by pneumonia with bronchiectasis. She had a history of recurrent skin and respiratory tract infections, such as pneumonia caused by MRSA (methicillin-resistant Staphylococcus aureus) and Pseudomonas aeruginosa. On physical examination, a broad round shaped nose, oral thrush, and chronic eczematous skin rash over her whole body were found. Laboratory data showed an elevated eosinophil count (750/μL) and total IgE level (5,001 U/mL). The patient's National Institutes of Health (NIH) score for HIES was 44. Direct sequencing of the STAT3 gene revealed that the patient was heterozygous for a missense mutation in the DNA binding domain of the STAT3 protein (c.1144C>T, p. Arg382Trp). HIES should be suspected in patients with recurrent infections and can be confirmed by clinical scoring and genetic analysis. | - |
dc.format.extent | 6 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.publisher | Korean Pediatric Society | - |
dc.title | A case of hyper-IgE syndrome with a mutation of the STAT3 gene | - |
dc.type | Article | - |
dc.identifier.doi | 10.3345/kjp.2010.53.4.592 | - |
dc.identifier.bibliographicCitation | Korean Journal of Pediatrics, v.53, no.4, pp 592 - 597 | - |
dc.identifier.kciid | ART001450269 | - |
dc.description.isOpenAccess | N | - |
dc.identifier.scopusid | 2-s2.0-79951685363 | - |
dc.citation.endPage | 597 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 592 | - |
dc.citation.title | Korean Journal of Pediatrics | - |
dc.citation.volume | 53 | - |
dc.type.docType | Article | - |
dc.publisher.location | 대한민국 | - |
dc.subject.keywordAuthor | Hyper IgE syndrome (HIES) | - |
dc.subject.keywordAuthor | Immunodeficiency | - |
dc.subject.keywordAuthor | STAT3 | - |
dc.description.journalRegisteredClass | scopus | - |
dc.description.journalRegisteredClass | kci | - |
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