Paucity of genotype–phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES)
نویسندگان
چکیده
منابع مشابه
Update 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 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 کاملSTAT3 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 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...
متن کاملRecurrent Skin and Lung Infections in Autosomal Dominant Hyper IgE Syndrome with Transactivation Domain STAT3 Mutation
Background. Hyper IgE is a rare systemic disease characterized by the clinical triad of high serum levels of IgE (>2000 IU/mL), eczema, and recurrent staphylococcal skin and lung infections. The presentation of hyper IgE syndrome is highly variable, which makes it easy to confuse the diagnosis with that of severe atopy or other rare immunodeficiency disorders. Case Report. A 23-year-old Hispani...
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ژورنال
عنوان ژورنال: Clinical Immunology
سال: 2011
ISSN: 1521-6616
DOI: 10.1016/j.clim.2011.01.001