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Selective Loss Of Function Variants In Il6St Cause Hyper-Ige Syndrome With Distinct Impairments Of T-Cell Phenotype And Function
(2019)
Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. ...