Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review
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Flanagan, 2014, Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, 46, 812, 10.1038/ng.3040
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Forbes, 2018, Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations, J Allergy Clin Immunol, 142, 1665, 10.1016/j.jaci.2018.07.020
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Maffucci, 2016, Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, 7, 220, 10.3389/fimmu.2016.00220
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Khoury, 2017, Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-of-function–associated multi-organ autoimmune syndrome, Clin Ther, 39, 444, 10.1016/j.clinthera.2017.01.004
Weinreich, 2017, Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, 5, 49, 10.3389/fped.2017.00049
Sediva, 2017, Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?, Horm Res Paediatr, 88, 160, 10.1159/000456544
Nabhani, 2017, STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds, Clin Immunol Orlando Fla, 181, 32, 10.1016/j.clim.2017.05.021
Velayos, 2017, An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, 66, 1022, 10.2337/db16-0867
Besnard, 2018, Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations, Clin Immunol, 188, 52, 10.1016/j.clim.2017.12.009
Fabre, 2018, STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, 197, e22, 10.1164/rccm.201707-1500IM
Gutiérrez, 2018, Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations, Mol Cell Endocrinol, 473, 166, 10.1016/j.mce.2018.01.016
Russell, 2018, A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID), Clin Immunol Orlando Fla, 187, 132, 10.1016/j.clim.2017.11.007
Takagi, 2018, Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, 65, e26831, 10.1002/pbc.26831
Giovannini-Chami, 2019, STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, 58, 365, 10.1093/rheumatology/key308
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Hwa, 2016, STAT5B deficiency: impacts on human growth and immunity, Growth Horm IGF Res, 28, 16, 10.1016/j.ghir.2015.12.006
Toubiana, 2016, Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype, Blood, 127, 3154, 10.1182/blood-2015-11-679902
Kofoed, 2003, Growth hormone insensitivity associated with a STAT5b mutation, N Engl J Med, 349, 1139, 10.1056/NEJMoa022926
Pechkovsky, 2012, STAT3-mediated signaling dysregulates lung fibroblast-myofibroblast activation and differentiation in UIP/IPF, Am J Pathol, 180, 1398, 10.1016/j.ajpath.2011.12.022
Flanagan, 2014, Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease, Nat Genet, 46, 812, 10.1038/ng.3040
Milner, 2015, Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations, Blood, 125, 591, 10.1182/blood-2014-09-602763
Haapaniemi, 2015, Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3, Blood, 125, 639, 10.1182/blood-2014-04-570101
Wienke, 2015, A novel human STAT3 mutation presents with autoimmunity involving Th17 hyperactivation, Oncotarget, 6, 20037, 10.18632/oncotarget.5042
Maffucci, 2016, Genetic diagnosis using whole exome sequencing in common variable immunodeficiency, Front Immunol, 7, 220, 10.3389/fimmu.2016.00220
Lau, 2016, Pulmonary manifestations of the autoimmune lymphoproliferative syndrome. A retrospective study of a unique patient cohort, Ann Am Thorac Soc, 13, 1279, 10.1513/AnnalsATS.201601-079OC
Russell, 2018, A novel de novo activating mutation in STAT3 identified in a patient with common variable immunodeficiency (CVID), Clin Immunol Orlando Fla, 187, 132, 10.1016/j.clim.2017.11.007
Velayos, 2017, An activating mutation in STAT3 results in neonatal diabetes through reduced insulin synthesis, Diabetes, 66, 1022, 10.2337/db16-0867
Sediva, 2017, Short stature in a boy with multiple early-onset autoimmune conditions due to a STAT3 activating mutation: could intracellular growth hormone signalling be compromised?, Horm Res Paediatr, 88, 160, 10.1159/000456544
Nabhani, 2017, STAT3 gain-of-function mutations associated with autoimmune lymphoproliferative syndrome like disease deregulate lymphocyte apoptosis and can be targeted by BH3 mimetic compounds, Clin Immunol Orlando Fla, 181, 32, 10.1016/j.clim.2017.05.021
Khoury, 2017, Tocilizumab promotes regulatory T-cell alleviation in STAT3 gain-of-function–associated multi-organ autoimmune syndrome, Clin Ther, 39, 444, 10.1016/j.clinthera.2017.01.004
Weinreich, 2017, Up, down, and all around: diagnosis and treatment of novel STAT3 variant, Front Pediatr, 5, 49, 10.3389/fped.2017.00049
Gutiérrez, 2018, Partial growth hormone insensitivity and dysregulatory immune disease associated with de novo germline activating STAT3 mutations, Mol Cell Endocrinol, 473, 166, 10.1016/j.mce.2018.01.016
Besnard, 2018, Pediatric-onset Evans syndrome: heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations, Clin Immunol, 188, 52, 10.1016/j.clim.2017.12.009
Fabre, 2018, STAT3 GOF: a new kid on the block in interstitial lung diseases, Am J Respir Crit Care Med, 197, e22, 10.1164/rccm.201707-1500IM
Takagi, 2018, Genetic heterogeneity of uncharacterized childhood autoimmune diseases with lymphoproliferation, Pediatr Blood Cancer, 65, e26831, 10.1002/pbc.26831
Forbes, 2018, Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations, J Allergy Clin Immunol, 142, 1665, 10.1016/j.jaci.2018.07.020
Giovannini-Chami, 2019, STAT3 gain of function: a new aetiology of severe rheumatic disease, Rheumatology, 58, 365, 10.1093/rheumatology/key308