| A case of Hyper-IgE syndrome with a mutation of the STAT3 gene |
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Ji-man Kang1, Jungmun Suh1, Jihyun Kim2, Hee-Jin Kim3, Yae-jean Kim1, Hun Seok Lee4, Young Kee Shin4, Kangmo Ahn1, Sang-Il Lee1 |
1Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
2Department of Pediatrics, College of Medicine, Chung-Ang University, Seoul, Korea
3Department of Laboratory Medicine & Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
4School of Medicine, the Research Institute of Pharmaceutical Science, Seoul |
| STAT3유전자 돌연변이 검사로 확진된 고면역글로불린E 증후군 1례 |
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강지만1, 서정민1, 김지현2, 김희진3, 김예진1, 이훈석4, 신영기4, 안강모1, 이상일1 |
1성균관대학교 의과대학 삼성서울병원 소아과학교실
2중앙대학교 의과대학 소아과학교실
3성균관대학교 의과대학 삼성서울병원 진단검사의학과
4서울대학교 약학대학 |
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| Abstract |
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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. |
| Key Words:
Hyper IgE syndrome (HIES), Immunodeficiency, STAT3 |
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