Korean Journal of Pediatrics 2010;53(4):592-597.
Published online April 15, 2010.
A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
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
강지만1, 서정민1, 김지현2, 김희진3, 김예진1, 이훈석4, 신영기4, 안강모1, 이상일1
1성균관대학교 의과대학 삼성서울병원 소아과학교실
2중앙대학교 의과대학 소아과학교실
3성균관대학교 의과대학 삼성서울병원 진단검사의학과
4서울대학교 약학대학
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.
Key Words: Hyper IgE syndrome (HIES), Immunodeficiency, STAT3


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