Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

[1]  Warszawski Uniwersytet Medyczny,et al.  Diabetes care , 2019, Health at a Glance.

[2]  M. Weedon,et al.  Improved genetic testing for monogenic diabetes using targeted next-generation sequencing , 2013, Diabetologia.

[3]  N. Morgan,et al.  Differential effects of interleukin-13 and interleukin-6 on Jak/STAT signaling and cell viability in pancreatic β-cells , 2013, Islets.

[4]  Xuefeng Yu,et al.  Th17 cells in type 1 diabetes. , 2012, Cellular immunology.

[5]  James T. Elder,et al.  Identification of fifteen new psoriasis susceptibility loci highlights the role of innate immunity , 2012, Nature Genetics.

[6]  L. Alfredsson,et al.  Variants Within STAT Genes Reveal Association with Anticitrullinated Protein Antibody-negative Rheumatoid Arthritis in 2 European Populations , 2012, The Journal of Rheumatology.

[7]  S. Mustjoki,et al.  Somatic STAT3 mutations in large granular lymphocytic leukemia. , 2012, The New England journal of medicine.

[8]  A. Hattersley,et al.  GATA6 haploinsufficiency causes pancreatic agenesis in humans , 2011, Nature Genetics.

[9]  J. Zucman‐Rossi,et al.  Somatic mutations activating STAT3 in human inflammatory hepatocellular adenomas , 2011, The Journal of experimental medicine.

[10]  S. Holland,et al.  Paucity of genotype-phenotype correlations in STAT3 mutation positive Hyper IgE Syndrome (HIES). , 2011, Clinical immunology.

[11]  Ludwig Kappos,et al.  Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene. , 2010, American journal of human genetics.

[12]  J. Todd,et al.  Analysis of 17 autoimmune disease-associated variants in type 1 diabetes identifies 6q23/TNFAIP3 as a susceptibility locus , 2009, Genes and Immunity.

[13]  A. Hattersley,et al.  Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes , 2009, Diabetes Care.

[14]  Judy H. Cho,et al.  Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease , 2008, Nature Genetics.

[15]  S. Tangye,et al.  Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3 , 2008, The Journal of experimental medicine.

[16]  Bodo Grimbacher,et al.  STAT3 mutations in the hyper-IgE syndrome. , 2007, The New England journal of medicine.

[17]  Hua Yu,et al.  Cutting Edge: An In Vivo Requirement for STAT3 Signaling in TH17 Development and TH17-Dependent Autoimmunity1 , 2007, The Journal of Immunology.

[18]  H. Takada,et al.  Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome , 2007, Nature.

[19]  Chen Dong,et al.  STAT3 Regulates Cytokine-mediated Generation of Inflammatory Helper T Cells* , 2007, Journal of Biological Chemistry.

[20]  J. Darnell,et al.  Signalling: STATs: transcriptional control and biological impact , 2002, Nature Reviews Molecular Cell Biology.

[21]  H. Dadi,et al.  Human immune disorder arising from mutation of the α chain of the interleukin-2 receptor , 1997 .

[22]  H E M Kay,et al.  Clinical and Experimental Immunology , 1966 .

[23]  Jing Cui,et al.  Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci , 2010, Nature Genetics.

[24]  Helen Schuilenburg,et al.  Genome-wide association study and meta-analysis finds over 40 loci affect risk of type 1 diabetes , 2009, Nature Genetics.

[25]  H. Ochs,et al.  The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3 , 2001, Nature Genetics.