期刊
IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA
卷 39, 期 1, 页码 49-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.iac.2018.08.007
关键词
Autosomal dominant hyper-IgE syndrome; Job's syndrome; Signal transducer and activator of transcription 3; Autosomal recessive hyper-IgE syndrome; Dedicator of cytokinesis 8; ERBB2-interacting protein; Phosphoglucomutase 3
资金
- Intramural Research Program, National Institutes of Health Clinical Center
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [ZIAAI001247] Funding Source: NIH RePORTER
Improvement in genetic testing has allowed specific delineation of several distinct clinical causes characterized by the hyperimmunoglobulin E (IgE) phenotype of eczema, recurrent infections, and elevated serum IgE. Mutations in STAT3, DOCK8, PGM3, ERBIN, IL6ST, and CARD11 cause clinical phenotypes that can present in this manner. This article focuses on loss of function STAT3 mutations causing autosomal-dominant hyper-IgE syndrome and dedicator of cytokinesis 8 deficiency, with discussion of other more recently described diseases.
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