Korean J Pediatr.
2010 Apr;53(4):592-597. 10.3345/kjp.2010.53.4.592.
A case of Hyper-IgE syndrome with a mutation of the STAT3 gene
- Affiliations
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- 1Department of Pediatric, Samsung Medical Center, Sungkyunkwan University School of Medicine, 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, the Research Institute of Pharmaceutical Science, Seoul, Korea.
- 4Seoul National University College of Pharmacy, Seoul, Korea.
- KMID: 2073588
- DOI: http://doi.org/10.3345/kjp.2010.53.4.592
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/microliter) 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.
Keyword
MeSH Terms
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Bronchiectasis
Candidiasis, Oral
DNA
Eczema
Eosinophils
Exanthema
Hemoptysis
Humans
Immunoglobulin E
Job's Syndrome
Methicillin-Resistant Staphylococcus aureus
Mutation, Missense
National Institutes of Health (U.S.)
Nose
Physical Examination
Pneumonia
Pseudomonas aeruginosa
Respiratory Tract Infections
Skin
Staphylococcus
STAT3 Transcription Factor
DNA
Immunoglobulin E
STAT3 Transcription Factor
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