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STAT3 gain-of-function mutation in an adult patient.

Medicina - 1 Jan 2021

López Ana Laura, Niemela Julie, Stoddard Jennifer, Paolini María Virginia, Rosenzweig Sergio, Fernández Romero Diego S

Abstract excerpt

Germline gain-of-function (GOF) mutation of the signal transducer and activator of transcription 3 (STAT3) gene causes a disease clinically characterized by a significant lymphoproliferation, including lymphadenopathy and/or hepatosplenomegaly, as well as childhood onset autoimmunity. Here we present an adult patient who, during his early years of life, presented recurrent infections, autoimmune hemolytic anemia...

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Autoimmunity
Gain of Function Mutation
Heterozygote
Mutation
STAT3 Transcription Factor

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PMID: 34875609

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