An Update on Syndromes with a Hyper-IgE Phenotype - 21/11/18
Résumé |
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.
Le texte complet de cet article est disponible en PDF.Keywords : 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
Plan
| Disclosures: The authors have no commercial or financial conflicts of interest to disclose. |
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| This work was supported by the Intramural Research Program, National Institutes of Health Clinical Center. The content of this article does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. |
Vol 39 - N° 1
P. 49-61 - février 2019 Retour au numéro
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