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  • 标题:A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
  • 本地全文:下载
  • 作者:Kang, Ji-man ; Suh, Jungmin ; Kim, Jihyun
  • 期刊名称:Korean Journal of Pediatrics
  • 印刷版ISSN:1738-1061
  • 出版年度:2010
  • 卷号:53
  • 期号:4
  • 页码:592-597
  • DOI:10.3345/kjp.2010.53.4.592
  • 语种:English
  • 出版社:The Korean Pediatric Society
  • 摘要:

    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.

  • 关键词:Hyper IgE syndrome (HIES); Immunodeficiency; STAT3
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