Pathway paradigms revealed from the genetics of inflammatory bowel disease

Intestinal non-canonical NFκB signaling shapes the local and systemic immune response

(2019) Sadeesh K. Ramakrishnan et al.   Nature Communications

Epithelial endoplasmic reticulum stress orchestrates a protective IgA response

(2019) Joep Grootjans et al.   SCIENCE

Distinct phenotype of CD4+ T cells driving celiac disease identified in multiple autoimmune conditions

(2019) Asbjørn Christophersen et al.   NATURE MEDICINE

Colonic epithelial cell diversity in health and inflammatory bowel disease

(2019) Kaushal Parikh et al.   NATURE

Loss of RHBDF2 results in an early‐onset spontaneous murine colitis

(2019) Ramasatyaveni Geesala et al.   JOURNAL OF LEUKOCYTE BIOLOGY

The NLRP3 inflammasome mediates DSS-induced intestinal inflammation in Nod2 knockout mice

(2019) Benjamin Umiker et al.   Innate Immunity

Anti-commensal IgG Drives Intestinal Inflammation and Type 17 Immunity in Ulcerative Colitis

(2019) Tomas Castro-Dopico et al.   IMMUNITY

Malassezia Is Associated with Crohn’s Disease and Exacerbates Colitis in Mouse Models

(2019) Jose J. Limon et al.   Cell Host & Microbe

Identification of Enteroendocrine Regulators by Real-Time Single-Cell Differentiation Mapping

(2019) Helmuth Gehart et al.   CELL

Real-world incidence of inflammatory bowel disease among patients with other chronic inflammatory diseases treated with interleukin-17a or phosphodiesterase 4 inhibitors

(2019) Bruno Emond et al.   CURRENT MEDICAL RESEARCH AND OPINION

Cytokine Networks in the Pathophysiology of Inflammatory Bowel Disease

(2019) Matthias Friedrich et al.   IMMUNITY

Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire

(2019) Shirly Frizinsky et al.   JOURNAL OF CLINICAL IMMUNOLOGY

IL-7 receptor influences anti-TNF responsiveness and T cell gut homing in inflammatory bowel disease

(2019) Lyssia Belarif et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical and biological predictors of response to standardised paediatric colitis therapy (PROTECT): a multicentre inception cohort study

(2019) Jeffrey S Hyams et al.   LANCET

Innate lymphoid cells support regulatory T cells in the intestine through interleukin-2

(2019) Lei Zhou et al.   NATURE

Multi-omics of the gut microbial ecosystem in inflammatory bowel diseases

(2019) Jason Lloyd-Price et al.   NATURE

Self-organization and symmetry breaking in intestinal organoid development

(2019) Denise Serra et al.   NATURE

Adverse effects of immune-checkpoint inhibitors: epidemiology, management and surveillance

(2019) Filipe Martins et al.   Nature Reviews Clinical Oncology

Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis

(2019) Christopher S. Smillie et al.   CELL

Innovations in Oral Therapies for Inflammatory Bowel Disease

(2019) Christopher Ma et al.   DRUGS

Discovery of a First-in-Class Receptor Interacting Protein 2 (RIP2) Kinase Specific Clinical Candidate, 2-((4-(Benzo[d]thiazol-5-ylamino)-6-(tert-butylsulfonyl)quinazolin-7-yl)oxy)ethyl Dihydrogen Phosphate, for the Treatment of Inflammatory Diseases

(2019) Pamela A. Haile et al.   JOURNAL OF MEDICINAL CHEMISTRY

Notum produced by Paneth cells attenuates regeneration of aged intestinal epithelium

(2019) Nalle Pentinmikko et al.   NATURE

CRISPR-Cas9–mediated gene knockout in intestinal tumor organoids provides functional validation for colorectal cancer driver genes

(2019) Haruna Takeda et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel Pharmacological Therapy in Inflammatory Bowel Diseases: Beyond Anti-Tumor Necrosis Factor

(2019) Cristiano Pagnini et al.   Frontiers in Pharmacology

IL-23–producing IL-10Rα–deficient gut macrophages elicit an IL-22–driven proinflammatory epithelial cell response

(2019) Biana Bernshtein et al.   Science Immunology

A specific gene-microbe interaction drives the development of Crohn’s disease–like colitis in mice

(2019) R. Caruso et al.   Science Immunology

Temporal induction of intestinal epithelial hypoxia-inducible factor-2α is sufficient to drive colitis

(2019) Sumeet Solanki et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Therapeutic Opportunities in Inflammatory Bowel Disease: Mechanistic Dissection of Host-Microbiome Relationships

(2019) Damian R. Plichta et al.   CELL

Single-Cell Analysis of Crohn’s Disease Lesions Identifies a Pathogenic Cellular Module Associated with Resistance to Anti-TNF Therapy

(2019) Jerome C. Martin et al.   CELL

Landscape of stimulation-responsive chromatin across diverse human immune cells

(2019) Diego Calderon et al.   NATURE GENETICS

Denisovan, modern human and mouse TNFAIP3 alleles tune A20 phosphorylation and immunity

(2019) Nathan W. Zammit et al.   NATURE IMMUNOLOGY

Interleukin-18 diagnostically distinguishes and pathogenically promotes human and murine macrophage activation syndrome

(2018) Eric S. Weiss et al.   BLOOD

Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases

(2018) Stella Hartono et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Small molecule inhibitors reveal an indispensable scaffolding role of RIPK2 in NOD2 signaling

(2018) Matous Hrdinka et al.   EMBO JOURNAL

Clinical and Genomic Correlates of Neutrophil Reactive Oxygen Species Production in Pediatric Patients With Crohn’s Disease

(2018) Lee A. Denson et al.   GASTROENTEROLOGY

Abnormal Small Intestinal Epithelial Microvilli in Patients With Crohn's Disease

(2018) Kelli L. VanDussen et al.   GASTROENTEROLOGY

Detection of Succinate by Intestinal Tuft Cells Triggers a Type 2 Innate Immune Circuit

(2018) Marija S. Nadjsombati et al.   IMMUNITY

Irg1expression in myeloid cells prevents immunopathology duringM. tuberculosisinfection

(2018) Sharmila Nair et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Expanded TCRβ CDR3 clonotypes distinguish Crohn’s disease and ulcerative colitis patients

(2018) J. Wu et al.   Mucosal Immunology

Enteroendocrine cells switch hormone expression along the crypt-to-villus BMP signalling gradient

(2018) Joep Beumer et al.   NATURE CELL BIOLOGY

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

(2018) Daniel Kotlarz et al.   NATURE GENETICS

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

(2018) Hilary K. Finucane et al.   NATURE GENETICS

CARD9S12N facilitates the production of IL-5 by alveolar macrophages for the induction of type 2 immune responses

(2018) Xia Xu et al.   NATURE IMMUNOLOGY

Selective autophagy of the adaptor TRIF regulates innate inflammatory signaling

(2018) Mohammad Samie et al.   NATURE IMMUNOLOGY

Suppression of IL-17F, but not of IL-17A, provides protection against colitis by inducing Treg cells through modification of the intestinal microbiota

(2018) Ce Tang et al.   NATURE IMMUNOLOGY

C1orf106is a colitis risk gene that regulates stability of epithelial adherens junctions

(2018) Vishnu Mohanan et al.   SCIENCE

An increase in LRRK2 suppresses autophagy and enhances Dectin-1–induced immunity in a mouse model of colitis

(2018) Tetsuya Takagawa et al.   Science Translational Medicine

Functional variants in the LRRK2 gene confer shared effects on risk for Crohn’s disease and Parkinson’s disease

(2018) Ken Y. Hui et al.   Science Translational Medicine

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population

(2018) Manuel A. Rivas et al.   PLoS Genetics

Innate Lymphoid Cells: 10 Years On

(2018) Eric Vivier et al.   CELL

Structural Remodeling of the Human Colonic Mesenchyme in Inflammatory Bowel Disease

(2018) James Kinchen et al.   CELL

RNF186 impairs insulin sensitivity by inducing ER stress in mouse primary hepatocytes

(2018) Xin Tong et al.   CELLULAR SIGNALLING

The Environmental Sensor AHR Protects from Inflammatory Damage by Maintaining Intestinal Stem Cell Homeostasis and Barrier Integrity

(2018) Amina Metidji et al.   IMMUNITY

IgA Responses to Microbiota

(2018) Jeffrey J. Bunker et al.   IMMUNITY

LAG3+ Regulatory T Cells Restrain Interleukin-23-Producing CX3CR1+ Gut-Resident Macrophages during Group 3 Innate Lymphoid Cell-Driven Colitis

(2018) David Bauché et al.   IMMUNITY

Itaconate is an anti-inflammatory metabolite that activates Nrf2 via alkylation of KEAP1

(2018) Evanna L. Mills et al.   NATURE

Nitric Oxide Engages an Anti-inflammatory Feedback Loop Mediated by Peroxiredoxin 5 in Phagocytes

(2018) Daniel B. Graham et al.   Cell Reports

NOD1 and NOD2 in inflammation, immunity and disease

(2018) Tapas Mukherjee et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

T Helper Cell Cytokines Modulate Intestinal Stem Cell Renewal and Differentiation

(2018) Moshe Biton et al.   CELL

Inhibiting Interleukin 36 Receptor Signaling Reduces Fibrosis in Mice with Chronic Intestinal Inflammation

(2018) Kristina Scheibe et al.   GASTROENTEROLOGY

SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase

(2018) Lasse Holt-Danborg et al.   HUMAN MOLECULAR GENETICS

LACC1 Regulates TNF and IL-17 in Mouse Models of Arthritis and Inflammation

(2018) Cara Skon-Hegg et al.   JOURNAL OF IMMUNOLOGY

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

(2018) Yue Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic and transcriptional analysis of inflammatory bowel disease-associated pathways in patients with GUCY2C-linked familial diarrhea

(2018) Rune R. Tronstad et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

(2018) Gudny A. Arnadottir et al.   Nature Communications

Understanding and Preventing the Global Increase of Inflammatory Bowel Disease

(2017) Gilaad G. Kaplan et al.   GASTROENTEROLOGY

Nucleotide-binding oligomerization domain (NOD) signaling defects and cell death susceptibility cannot be uncoupled in X-linked inhibitor of apoptosis (XIAP)-driven inflammatory disease

(2017) Steven M. Chirieleison et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inflammasome activation and assembly at a glance

(2017) Ankit Malik et al.   JOURNAL OF CELL SCIENCE

Intestinal epithelial cell endoplasmic reticulum stress promotes MULT1 up-regulation and NKG2D-mediated inflammation

(2017) Shuhei Hosomi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Fine-mapping inflammatory bowel disease loci to single-variant resolution

(2017) Hailiang Huang et al.   NATURE

A single-cell survey of the small intestinal epithelium

(2017) Adam L. Haber et al.   NATURE

IL11 is a crucial determinant of cardiovascular fibrosis

(2017) Sebastian Schafer et al.   NATURE

Discovery of stimulation-responsive immune enhancers with CRISPR activation

(2017) Dimitre R. Simeonov et al.   NATURE

Genome-wide association study identifies distinct genetic contributions to prognosis and susceptibility in Crohn's disease

(2017) James C Lee et al.   NATURE GENETICS

Genome-wide association study implicates immune activation of multiple integrin genes in inflammatory bowel disease

(2017) Katrina M de Lange et al.   NATURE GENETICS

Oncostatin M drives intestinal inflammation and predicts response to tumor necrosis factor–neutralizing therapy in patients with inflammatory bowel disease

(2017) Nathaniel R West et al.   NATURE MEDICINE

Small-molecule inhibitors directly target CARD9 and mimic its protective variant in inflammatory bowel disease

(2017) Elizaveta S. Leshchiner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes

(2017) Amit Lahiri et al.   Nature Communications

Interleukin 1β Mediates Intestinal Inflammation in Mice and Patients With Interleukin 10 Receptor Deficiency

(2016) Dror S. Shouval et al.   GASTROENTEROLOGY

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease

(2016) Qi Li et al.   GASTROENTEROLOGY

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

(2016) Tobias Schwerd et al.   GUT

Genetic Coding Variant in GPR65 Alters Lysosomal pH and Links Lysosomal Dysfunction with Colitis Risk

(2016) Kara G. Lassen et al.   IMMUNITY

Regulation of intestinal homeostasis by the ulcerative colitis-associated gene RNF186

(2016) Kosuke Fujimoto et al.   Mucosal Immunology

Analysis of five chronic inflammatory diseases identifies 27 new associations and highlights disease-specific patterns at shared loci

(2016) David Ellinghaus et al.   NATURE GENETICS

C13orf31 (FAMIN) is a central regulator of immunometabolic function

(2016) M Zaeem Cader et al.   NATURE IMMUNOLOGY

Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity

(2016) C. A. Dendrou et al.   Science Translational Medicine

TMEM258 Is a Component of the Oligosaccharyltransferase Complex Controlling ER Stress and Intestinal Inflammation

(2016) Daniel B. Graham et al.   Cell Reports

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

(2015) Julien H. Park et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Single-Cell Genomics Unveils Critical Regulators of Th17 Cell Pathogenicity

(2015) Jellert T. Gaublomme et al.   CELL

A Genome-wide CRISPR Screen in Primary Immune Cells to Dissect Regulatory Networks

(2015) Oren Parnas et al.   CELL

Stabilization of HIF through inhibition of Cullin-2 neddylation is protective in mucosal inflammatory responses

(2015) Valerie F. Curtis et al.   FASEB JOURNAL

Interleukin-33 in Tissue Homeostasis, Injury, and Inflammation

(2015) Ari B. Molofsky et al.   IMMUNITY

Ubiquitin Ligase TRIM62 Regulates CARD9-Mediated Anti-fungal Immunity and Intestinal Inflammation

(2015) Zhifang Cao et al.   IMMUNITY

Differential Roles for Interleukin-23 and Interleukin-17 in Intestinal Immunoregulation

(2015) Joseph R. Maxwell et al.   IMMUNITY

T-cell exhaustion, co-stimulation and clinical outcome in autoimmunity and infection

(2015) Eoin F. McKinney et al.   NATURE

Single-cell messenger RNA sequencing reveals rare intestinal cell types

(2015) Dominic Grün et al.   NATURE

High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis

(2015) Philippe Goyette et al.   NATURE GENETICS

Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations

(2015) Jimmy Z Liu et al.   NATURE GENETICS

XIAP deficiency syndrome in humans

(2015) Sylvain Latour et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Rare mutations associating with serum creatinine and chronic kidney disease

(2014) Gardar Sveinbjornsson et al.   HUMAN MOLECULAR GENETICS

Interleukin-10 Receptor Signaling in Innate Immune Cells Regulates Mucosal Immune Tolerance and Anti-Inflammatory Macrophage Function

(2014) Dror S. Shouval et al.   IMMUNITY

Macrophage-Restricted Interleukin-10 Receptor Deficiency, but Not IL-10 Deficiency, Causes Severe Spontaneous Colitis

(2014) Ehud Zigmond et al.   IMMUNITY

Transmigrating Neutrophils Shape the Mucosal Microenvironment through Localized Oxygen Depletion to Influence Resolution of Inflammation

(2014) Eric L. Campbell et al.   IMMUNITY

A Crohn’s disease variant in Atg16l1 enhances its degradation by caspase 3

(2014) Aditya Murthy et al.   NATURE

The alarmin IL-33 promotes regulatory T-cell function in the intestine

(2014) Chris Schiering et al.   NATURE

Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome

(2014) Hao Xu et al.   NATURE

Atg16L1 T300A variant decreases selective autophagy resulting in altered cytokine signaling and decreased antibacterial defense

(2014) K. G. Lassen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IL-1 receptor blockade restores autophagy and reduces inflammation in chronic granulomatous disease in mice and in humans

(2014) Antonella de Luca et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Endothelial PAS Domain Protein 1 Activates the Inflammatory Response in the Intestinal Epithelium to Promote Colitis in Mice

(2013) Xiang Xue et al.   GASTROENTEROLOGY

Genetic Variants Synthesize to Produce Paneth Cell Phenotypes That Define Subtypes of Crohn's Disease

(2013) Kelli L. VanDussen et al.   GASTROENTEROLOGY

Genomic ATG16L1 risk allele-restricted Paneth cell ER stress in quiescent Crohn's disease

(2013) J Jasper Deuring et al.   GUT

Paneth cells as a site of origin for intestinal inflammation

(2013) Timon E. Adolph et al.   NATURE

Succinate is an inflammatory signal that induces IL-1β through HIF-1α

(2013) G. M. Tannahill et al.   NATURE

Control of creatine metabolism by HIF is an endogenous mechanism of barrier regulation in colitis

(2013) L. E. Glover et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deep Resequencing of GWAS Loci Identifies Rare Variants in CARD9, IL23R and RNF186 That Are Associated with Ulcerative Colitis

(2013) Mélissa Beaudoin et al.   PLoS Genetics

An NLRP7-Containing Inflammasome Mediates Recognition of Microbial Lipopeptides in Human Macrophages

(2012) Sonal Khare et al.   IMMUNITY

Host–microbe interactions have shaped the genetic architecture of inflammatory bowel disease

(2012) Luke Jostins et al.   NATURE

Cutting Edge: Crohn's Disease-Associated Nod2 Mutation Limits Production of Proinflammatory Cytokines To Protect the Host from Enterococcus faecalis-Induced Lethality

(2011) Y.-G. Kim et al.   JOURNAL OF IMMUNOLOGY

Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease

(2011) Manuel A Rivas et al.   NATURE GENETICS

Endogenous IGFBP-3 regulates excess collagen expression in intestinal smooth muscle cells of Crohnʼs disease strictures

(2010) Robert S. Flynn et al.   INFLAMMATORY BOWEL DISEASES

Nuocytes represent a new innate effector leukocyte that mediates type-2 immunity

(2010) Daniel R. Neill et al.   NATURE

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

XBP1 Links ER Stress to Intestinal Inflammation and Confers Genetic Risk for Human Inflammatory Bowel Disease

(2008) Arthur Kaser et al.   CELL

RORγ-Expressing Th17 Cells Induce Murine Chronic Intestinal Inflammation via Redundant Effects of IL-17A and IL-17F

(2008) Moritz Leppkes et al.   GASTROENTEROLOGY

A key role for autophagy and the autophagy gene Atg16l1 in mouse and human intestinal Paneth cells

(2008) Ken Cadwell et al.   NATURE

Loss of the autophagy protein Atg16L1 enhances endotoxin-induced IL-1β production

(2008) Tatsuya Saitoh et al.   NATURE

Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease

(2008) Steven A McCarroll et al.   NATURE GENETICS

A NOD2-NALP1 complex mediates caspase-1-dependent IL-1  secretion in response to Bacillus anthracis infection and muramyl dipeptide

(2008) L.-C. Hsu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA