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Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

Elaine Remmers and colleagues report a genome-wide association study for Behçet's Disease in a Turkish population. They identify associations in the Class I region of the MHC, IL10 and IL23R-IL12RB2.

Elaine F Remmers
Fulya Cosan
Ahmet Gül
Research11 Jul 2010
Nature Genetics

Volume: 42, P: 698-702
Epigenetic dysregulation in aged muscle stem cells drives mesenchymal progenitor expansion via IL-6 and Spp1 signaling

Riparini et al. demonstrate that aged muscle stem cells amplify fibrosis by expanding mesenchymal progenitors via IL-6 and Spp1. Blocking these signals in aged mice curbs fibrosis and enhances muscle repair.

Giulia Riparini
Morgan Mackenzie
Vittorio Sartorelli
ResearchOpen Access29 Oct 2025
Nature Aging

Volume: 5, P: 2399-2416
Author Correction: Protein kinases: drug targets for immunological disorders

Leslie Castelo-Soccio
Hanna Kim
John J. O’Shea
Amendments and Corrections27 Nov 2023
Nature Reviews Immunology

Volume: 24, P: 79
Erratum: JAK inhibition as a therapeutic strategy for immune and inflammatory diseases

Daniella M. Schwartz
Yuka Kanno
John J. O'Shea
Amendments and Corrections28 Dec 2017
Nature Reviews Drug Discovery

Volume: 17, P: 78
Fyn kinase initiates complementary signals required for IgE-dependent mast cell degranulation

Valentino Parravicini
Massimo Gadina
Juan Rivera
Research01 Jul 2002
Nature Immunology

Volume: 3, P: 741-748
Type I/II cytokines, JAKs, and new strategies for treating autoimmune diseases

Cytokines that signal via the Janus kinase (JAK) and signal transducer and activator of transcription (STAT) pathway have diverse roles in normal immune responses as well as immune-mediated diseases. This Review provides an overview of these roles as well as the JAK–STAT pathway, and discusses emerging therapies that block JAKs and the cytokines that signal through them.

Daniella M. Schwartz
Michael Bonelli
John J. O'Shea
Reviews03 Dec 2015
Nature Reviews Rheumatology

Volume: 12, P: 25-36
Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

Here, the authors describe biallelic loss-of-function variants in human SHARPIN in individuals with autoinflammation and immunodeficiency, termed sharpenia. They also successfully treat one of these individuals with TNF inhibitors.

Hirotsugu Oda
Kalpana Manthiram
Daniel L. Kastner
Research12 Apr 2024
Nature Immunology

Volume: 25, P: 764-777
3-hydroxy-L-kynurenamine is an immunomodulatory biogenic amine

3-hydroxy-L-kynurenamine (3-HKA) is a metabolite deriving from a lateral pathway of tryptophan catabolism. Here the authors identify 3-HKA as a biogenic amine and show it has anti-inflammatory properties that can protect mice against psoriasis and nephrotoxic nephritis.

Cristina C. Clement
Angelo D’Alessandro
Laura Santambrogio
ResearchOpen Access21 Jul 2021
Nature Communications

Volume: 12, P: 1-17
Immune modulation: Turncoat regulatory T cells

Massimo Gadina
John J O'Shea
Comments & Opinion01 Dec 2009
Nature Medicine

Volume: 15, P: 1365
Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

Heterozygous mutateons in the caspase-8 cleavage site of RIPK1 cause a range of autoinflammatory symptoms in humans, and caspase-8 cleavage of RIPK1 in a mouse model limits TNF-induced cell death and inflammation.

Najoua Lalaoui
Steven E. Boyden
John Silke
Research11 Dec 2019
Nature

Volume: 577, P: 103-108
JAK inhibition as a therapeutic strategy for immune and inflammatory diseases

Janus kinases (JAKs) are essential signalling mediators downstream of many pro-inflammatory cytokines. Jakinibs — small-molecule inhibitors of JAKs — have gained traction as safe and efficacious options for the treatment of inflammation-driven pathologies. This Review discusses the biology, development and efficacy of jakinibs in the treatment of immune and inflammatory diseases.

Daniella M. Schwartz
Yuka Kanno
John J. O'Shea
Reviews06 Nov 2017
Nature Reviews Drug Discovery

Volume: 16, P: 843-862
Phase 1 double-blind randomized safety trial of the Janus kinase inhibitor tofacitinib in systemic lupus erythematosus

Increased risk of premature cardiovascular disease in systemic lupus erythematosus (SLE) is not well understood, but in animal models, the Janus kinase inhibitor tofacitinib improves related phenotypes. Here the authors report a Phase 1 double-blind randomized trial that shows tofacitinib is safe and well tolerated in in patients with SLE.

Sarfaraz A. Hasni
Sarthak Gupta
Mariana J. Kaplan
ResearchOpen Access07 Jun 2021
Nature Communications

Volume: 12, P: 1-11
Selective Janus kinase inhibitors come of age

Janus kinase (JAK) inhibitors (jakinibs) that target downstream signalling by a large range of cytokines are effective in treating autoimmune and rheumatic diseases. Newer jakinibs that selectively inhibit individual JAKs and a narrower spectrum of cytokines have now been developed, but how do these inhibitors compare with existing drugs?

John J. O’Shea
Massimo Gadina
News & Views08 Jan 2019
Nature Reviews Rheumatology

Volume: 15, P: 74-75
JAK inhibitor selectivity: new opportunities, better drugs?

This Review provides an update on developments in Janus kinase inhibitors, including new disease indications and adverse effects. The authors discuss issues surrounding selectivity and efficacy, as well as new routes for administration of Janus kinase inhibitors.

Anniina Virtanen
Francesca Romana Spinelli
Massimo Gadina
Reviews09 Sept 2024
Nature Reviews Rheumatology

Volume: 20, P: 649-665
Protein kinases: drug targets for immunological disorders

Drugs that target protein kinases have had a major impact on the treatment of cancer and now are proving beneficial in numerous immunological diseases. This Review describes their clinical application, with a focus on Janus kinase inhibitors, and how they inform mechanisms of disease and have evolved to improve efficacy and safety.

Leslie Castelo-Soccio
Hanna Kim
John J. O’Shea
Reviews15 May 2023
Nature Reviews Immunology

Volume: 23, P: 787-806
Super-enhancers delineate disease-associated regulatory nodes in T cells

A study of the super-enhancer landscape in three mouse T-helper lymphocyte subsets identifies nodes that have key roles in cell identity, with the locus encoding Bach2, a key negative regulator of effector differentiation, emerging as the most prominent T-cell super-enhancer.

Golnaz Vahedi
Yuka Kanno
John J. O’Shea
Research16 Feb 2015
Nature

Volume: 520, P: 558-562
Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Ivona Aksentijevich and colleagues identify heterozygous loss-of-function mutations in TNFAIP3 (encoding A20) in six unrelated families with early-onset systemic inflammation. Affected individuals exhibit increased expression of NF-κB–mediated proinflammatory cytokines, consistent with the established role of A20 as a potent inhibitor of the NF-κB signaling pathway.

Qing Zhou
Hongying Wang
Ivona Aksentijevich
Research07 Dec 2015
Nature Genetics

Volume: 48, P: 67-73
Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility

Daniel Kastner, Elaine Remmers and colleagues perform an association study of Behçet's disease based on dense genotyping of immune-related loci. They identify new association signals near genes involved in host response to microbial exposure and extend evidence for shared susceptibility loci with Crohn's disease and leprosy.

Masaki Takeuchi
Nobuhisa Mizuki
Elaine F Remmers
Research06 Feb 2017
Nature Genetics

Volume: 49, P: 438-443
Whole Chromosome Instability induces senescence and promotes SASP

Grasiella Angelina Andriani
Vinnycius Pereira Almeida
Cristina Montagna
ResearchOpen Access12 Oct 2016
Scientific Reports

Volume: 6, P: 1-17
Mammary tumors in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer

Zoë Weaver
Cristina Montagna
Thomas Ried
Research29 Jul 2002
Oncogene

Volume: 21, P: 5097-5107

Search

Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease

Epigenetic dysregulation in aged muscle stem cells drives mesenchymal progenitor expansion via IL-6 and Spp1 signaling

Author Correction: Protein kinases: drug targets for immunological disorders

Erratum: JAK inhibition as a therapeutic strategy for immune and inflammatory diseases

Fyn kinase initiates complementary signals required for IgE-dependent mast cell degranulation

Type I/II cytokines, JAKs, and new strategies for treating autoimmune diseases

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency

3-hydroxy-L-kynurenamine is an immunomodulatory biogenic amine

Immune modulation: Turncoat regulatory T cells

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

JAK inhibition as a therapeutic strategy for immune and inflammatory diseases

Phase 1 double-blind randomized safety trial of the Janus kinase inhibitor tofacitinib in systemic lupus erythematosus

Selective Janus kinase inhibitors come of age

JAK inhibitor selectivity: new opportunities, better drugs?

Protein kinases: drug targets for immunological disorders

Super-enhancers delineate disease-associated regulatory nodes in T cells

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet's disease susceptibility

Whole Chromosome Instability induces senescence and promotes SASP

Mammary tumors in mice conditionally mutant for Brca1 exhibit gross genomic instability and centrosome amplification yet display a recurring distribution of genomic imbalances that is similar to human breast cancer

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