The ying and yang of STAT3 in human disease

TP Vogel, JD Milner, MA Cooper - Journal of clinical immunology, 2015 - Springer
The transcription factor signal transducer and activator of transcription 3 (STAT3) is a critical
regulator of multiple, diverse cellular processes. Heterozgyous, germline, loss-of-function …

Signal transducer and activator of transcription 3: a year in review

LR Forbes, J Milner, E Haddad - Current opinion in hematology, 2016 - journals.lww.com
The discovery of new gain-of-function mutations in STAT3, as well as new studies among
patients with loss-of-function mutations, expand the understanding of the pathophysiology of …

[HTML][HTML] Germline STAT3 gain-of-function mutations in primary immunodeficiency: impact on the cellular and clinical phenotype

L Faletti, S Ehl, M Heeg - biomedical journal, 2021 - Elsevier
Signal transducer and activator of transcription 3 (STAT3) is a key transcription factor
involved in regulation of immune cell activation and differentiation. Recent discoveries …

STAT mutations as program switchers: turning primary immunodeficiencies into autoimmune diseases

T Lorenzini, L Dotta, M Giacomelli… - Journal of Leucocyte …, 2017 - academic.oup.com
STAT proteins are a family of transcription factors that mediate cellular response to cytokines
and growth factors. Study of patients with familial susceptibility to pathogens and/or …

STAT3 is a central regulator of lymphocyte differentiation and function

A Kane, EK Deenick, CS Ma, MC Cook, G Uzel… - Current opinion in …, 2014 - Elsevier
Highlights•Mutations in cytokine signalling pathways cause human primary
immunodeficiencies.•Mutations in STAT3 result in autosomal hyper-IgE syndrome (AD …

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3

EM Haapaniemi, M Kaustio, HLM Rajala… - Blood, The Journal …, 2015 - ashpublications.org
The signal transducer and activator of transcription (STAT) family of transcription factors
orchestrate hematopoietic cell differentiation. Recently, mutations in STAT1, STAT5B, and …

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

JD Milner, TP Vogel, L Forbes, CA Ma… - Blood, The Journal …, 2015 - ashpublications.org
Germline loss-of-function mutations in the transcription factor signal transducer and activator
of transcription 3 (STAT3) cause immunodeficiency, whereas somatic gain-of-function …

The ups and downs of STAT3 function: too much, too little and human immune dysregulation

J Mackie, CS Ma, SG Tangye… - Clinical and experimental …, 2023 - academic.oup.com
The STAT3 story has almost 30 years of evolving history. First identified in 1994 as a pro-
inflammatory transcription factor, Signal Transducer and Activator of Transcription 3 (STAT3) …

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

S Jägle, M Heeg, S Grün, A Rensing-Ehl, ME Maccari… - Clinical …, 2020 - Elsevier
Germline STAT3 gain-of-function (GOF) mutations have been linked to poly-autoimmunity
and lymphoproliferation with variable expressivity and incomplete penetrance. Here we …

The STAT5b pathway defect and autoimmunity

T Kanai, J Jenks, KC Nadeau - Frontiers in immunology, 2012 - frontiersin.org
The signal transducer and activator of transcription (STAT) 5b is a universal transcription
factor that plays key biological roles in allergic diseases, immunodeficiencies …