Journal
CURRENT OPINION IN IMMUNOLOGY
Volume 21, Issue 5, Pages 487-492Publisher
CURRENT BIOLOGY LTD
DOI: 10.1016/j.coi.2009.07.013
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Funding
- Japanese Ministry of Education, Culture, Sports, Science and Technology, and Research on Intractable Diseases [19390282, 20060009, 21659253]
- Ministry of Health, Labor and Welfare
- Uehara Foundation
- Naito Foundation
- Mother and Child Health Foundation
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Hyper-IgE syndrome (HIES) is a complex primary immunodeficiency characterized by atopic dermatitis associated with extremely high serum IgE levels and susceptibility to infections with extracellular bacteria. Nonimmunological abnormalities, including a distinctive facial appearance, fracture following minor trauma, scoliosis, hyperextensive joints, and the retention of deciduous teeth are also observed in most patients. Recent studies have demonstrated that dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) gene result in the classical multisystem form of HIES, whereas a null mutation in the tyrosine kinase 2 (TYK2) gene causes an autosomal recessive HIES associated with viral and mycobacterial infections. In both patients, signal transduction for multiple cytokines, including IL-6 and IL-23, was defective, resulting in impaired T(H)17 function. These findings suggest that the defect in cytokine signaling constitutes the molecular basis for the immunological and nonimmunological abnormalities observed in HIES.
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