Autosomal dominant transmission of signal transduction and activator of transcription 1 (STAT1) mutation (Thr385Met) and extended lifespan

Ruda Wessell, Kathryn; Tcheurekdjian, Haig; Hostoffer, Robert

doi:10.14785/lpsn-2015-0013

Public

Autosomal dominant transmission of signal transduction and activator of transcription 1 (STAT1) mutation (Thr385Met) and extended lifespan

Published in LymphoSign Journal • Feb 10, 2016

Authors:

Kathryn Ruda Wessell

Haig Tcheurekdjian

Robert Hostoffer

Abstract

Introduction: Heterozygous mutations in signal transducer and activator of transcription 1 (STAT1) have been associated with selective deficiencies to mycobacterial or fungal infections. Recent reports revealed that patients found to carry de novo heterozygous mutations in STAT1 encoding specific am...

Subject

Primary immunodeficiency

Biology

Immunodeficiency

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