Τετάρτη 3 Μαΐου 2017

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Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) are associated with immunodeficiency and autoimmunity. Weinacht et al (p 1629) report on a child with a novel STAT1 GOF mutation presenting with life-threatening autoimmune hemolytic anemia unresponsive to conventional therapy. The authors demonstrated the following:

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