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Article

Signal transducer and activator of transcription gain-of-function primary immunodeficiency/immunodysregulation disorders

15 Sept 2017

Abstract excerpt

PURPOSE OF REVIEW: To describe primary immunodeficiencies caused by gain-of-function (GOF) mutations of signal transducer and activator of transcription (STAT) genes, a group of genetically determined disorders characterized by susceptibility to infections and, in many cases, autoimmune manifestations. RECENT FINDINGS: GOF mutations affecting STAT1 result in increased STAT tyrosine phosphorylation and secondarily...

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PMID: 28914637
DOI: 10.1097/mop.0000000000000551

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