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:
http://ift.tt/2pER8Ch
Δεν υπάρχουν σχόλια:
Δημοσίευση σχολίου