STAT3 Hyper-IgE Syndrome—an Update and Unanswered Questions
نویسندگان
چکیده
منابع مشابه
STAT3 and the Hyper-IgE syndrome
During recent years a number of primary immunodeficiencies resulting from impaired function of JAK-STAT molecules have been described. One of these is the Hyper-IgE syndrome (HIES) characterized by elevated IgE levels, eczema, recurrent staphylococcal skin and pulmonary infections and pleiotropic somatic manifestations. In 2007 the genetic basis of HIES was revealed by identification of dominan...
متن کاملupdate on hyper ige syndrome (hies)
hyper ige syndrome (hies) is a rare primary immunodeficiency disease. most of hies cases are sporadic. hies type ad is caused by mutation in signal transducer and activator of transcription-3 (stat-3). a number of mosaicism hies has been reported that is associated with intermediate phenotype. autosomal recessive hies (ar-hies) is due to mutation in dock-8 or cytokine sis 8 and tyk2 or tyrosine...
متن کاملAn update on the hyper-IgE syndromes
The hyper-IgE syndromes (HIES; originally named Job's syndrome) are a collection of primary immunodeficiency syndromes resulting in elevated serum IgE levels and typified by recurrent staphylococcal skin abscesses, eczema and pulmonary infections. The disorder has autosomal dominant and recessive forms. Autosomal dominant HIES has been shown to be mainly due to STAT3 mutations and additionally ...
متن کاملUpdate on Hyper IgE syndrome (HIES)
Article type: Review Article Hyper IgE Syndrome (HIES) is a rare primary immunodeficiency disease. Most of HIES cases are sporadic. Autosomal dominant HIES is caused by mutation in signal transducer and activator of transcription-3 (STAT-3). A number of mosaicism HIES has been reported that is associated with intermediate phenotype. Autosomal recessive HIES is due to mutation in Dock-8 or cytok...
متن کاملMutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
BACKGROUND The hyper-IgE syndrome (HIES) is a primary immunodeficiency characterized by infections of the lung and skin, elevated serum IgE, and involvement of the soft and bony tissues. Recently, HIES has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3) and severe reductions of T(H)17 cells. OBJECTIVE To determine...
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ژورنال
عنوان ژورنال: Journal of Clinical Immunology
سال: 2021
ISSN: 0271-9142,1573-2592
DOI: 10.1007/s10875-021-01051-1