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Al Khatib S., Keles S., Garcia-Lioret M., Koc-Aydiner E. K., Reisli I., ARTAÇ H., ...More
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.124, no.2, pp.342-348, 2009 (SCI-Expanded)
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Publication Type:
Article / Article
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Volume:
124
Issue:
2
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Publication Date:
2009
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Doi Number:
10.1016/j.jaci.2009.05.004
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Journal Name:
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
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Journal Indexes:
Science Citation Index Expanded (SCI-EXPANDED), Scopus
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Page Numbers:
pp.342-348
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Keywords:
Hyper IgE syndrome, STAT3, T(H)17, IL-6, IL-21, ROR gamma t, UNPHOSPHORYLATED STAT3, CELL-DIFFERENTIATION, MUTATIONS, ROLES, PHOSPHORYLATION, DEFICIENCY, GENERATION, DEFENSE, BINDING, INNATE
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Akdeniz University Affiliated:
No
Abstract
Background: The hyper IgE syndrome (HIES) is characterized by abscesses, eczema, recurrent infections, skeletal and connective tissue abnormalities, elevated serum IgE, and diminished inflammatory responses. It exists as autosomal-dominant and autosomal-recessive forms that manifest common and distinguishing clinical features. A majority of those with autosomal-dominant HIES have heterozygous mutations in signal transducer and activator of transcription (STAT)-3 and impaired T(H)17 differentiation.