Article

Novel STAT3 gain-of-function variant with hypogammaglobulinemia and recurrent infection phenotype

2021-03-09

Abstract excerpt

Signal transducer and activator of transcription 3 (STAT3) gain-of-function (GOF) syndrome is an early-onset monogenic inborn error of immunity characterized by multi-organ autoimmune disorders, growth failure and lymphoproliferation. We describe that STAT3 GOF syndrome may be presented with hypogammaglobulinemia and recurrent severe upper and lower respiratory tract infections. The patient we present here did not...

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Literature Corpus work: 0095d5bd-a046-573d-b818-e57b949791d8
DOI: 10.22541/au.161533275.54733688/v1

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