Research progress of STAT3 gene mutation-related immune diseases
Signal transducer and activator of transcription 3(STAT3)mutations can be classified into loss-of-function(LOF)mutation and gain-of-function(GOF)mutation.STAT3 LOF mutation causes autosomal-dominant hyper-IgE syndrome(AD-HIES),which is characterized by repeated skin and lung infections,intractable eczematoid dermatitis,characteristic facial features,delayed primary teeth shedding,short stature,and accompanied by increased serum IgE level and peripheral eosinophilia.Patients with germline STAT3 GOF mutations are characterized by early-onset immune dysregulation syndrome including autoimmune hemocytopenia,enteritis,interstitial pneumonitis,and endocrine diseases.The use of antibiotics and prevention of complications are recommended for treatment of AD-HIES while targeted biologics for treatment of STAT3 GOF mutation.
STAT3 transcription factorhyper-IgE syndromeimmune system diseases
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