STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

Zimmerman, O; Olbrich, P; Freeman, AF; Rosen, LB; Uzel, G; Zerbe, CS; Rosenzweig, SD; Kuehn, HS; Holmes, KL; Stephany, D; Ding, L; Sampaio, EP; Hsu, AP; Holland, SM

Holland, SM (reprint author), Natl Inst Allergy & Immunol, Lab Clin Immunol & Microbiol, NIH, Bethesda, MD USA.

FRONTIERS IN IMMUNOLOGY, 2019; 10 ():

Abstract

Signal transducer and activator of transcription (STAT1) 1 gain of function (GOF) pathogenic variants have been associated with increased levels of ph......

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