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Korean J Pediatr 2010 April;53(4) :592-597.
doi:https://doi.org/10.3345/kjp.2010.53.4.592
A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
Ji-man Kang (Kang Jm)1, Jungmun Suh (Suh Jm)1, Jihyun Kim (Kim Jh)2, Hee-Jin Kim (Kim HJ)3, Yae-jean Kim (Kim Yj)1, Hun Seok Lee (Lee HS)4, Young Kee Shin (Shin YK)4, Kangmo Ahn (Ahn Km)1, Sang-Il Lee (Lee SI)1
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
Copyright © 2010 by The Korean Pediatric Society
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 patients 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.
Keywords: Hyper IgE syndrome (HIES) | Immunodeficiency | STAT3
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