A case of hyper-IgE syndrome with a mutation of the STAT3 gene
- Authors
- Kang, J.; Suh, J.; Kim, J.; Kim, H.-J.; Kim, Y.-J.; Lee, H.S.; Shin, Y.K.; Ahn, K.; Lee, S.-I.
- Issue Date
- 2010
- Publisher
- Korean Pediatric Society
- Keywords
- Hyper IgE syndrome (HIES); Immunodeficiency; STAT3
- Citation
- Korean Journal of Pediatrics, v.53, no.4, pp 592 - 597
- Pages
- 6
- Journal Title
- Korean Journal of Pediatrics
- Volume
- 53
- Number
- 4
- Start Page
- 592
- End Page
- 597
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/46886
- DOI
- 10.3345/kjp.2010.53.4.592
- ISSN
- 1738-1061
2092-7258
- 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.
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