A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance
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 کاملHyper-IgE syndrome with a novel STAT3 mutation-a single center study from India.
BACKGROUND Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by the triad of elevated IgE and eosinophilia, eczema and recurrent skin and pulmonary infections. Mutation in the STAT3 gene accounts for majority of the autosomal dominant and sporadic forms of HIES. OBJECTIVE To report clinical and molecular analyses of patients with Hyper IgE syndrome from a sin...
متن کاملHyper-IgE Syndrome with STAT3 Mutation: A Case Report in Mainland China
Hyper-immunoglobulin E syndromes (HIES) including compound primary immunodeficiency and nonimmunological abnormalities are characterized by extremely high serum IgE levels, eosinophilia, eczema, susceptibility to infections, distinctive facial appearance, retention of deciduous teeth, cyst-forming pneumonias, and skeletal abnormalities. Itis reported that some cases of familial HIES are relativ...
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...
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: Proceedings of the National Academy of Sciences
سال: 2019
ISSN: 0027-8424,1091-6490
DOI: 10.1073/pnas.1901409116