From Genes to Mechanisms

Disease-Specific Alterations in the Enteric Virome in Inflammatory Bowel Disease

(2015) Jason M. Norman et al.   CELL

Very Early-onset Inflammatory Bowel Disease

(2015) Christopher J. Moran et al.   INFLAMMATORY BOWEL DISEASES

The extended clinical phenotype of 64 patients with dedicator of cytokinesis 8 deficiency

(2015) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The fungal microbiota of de-novo paediatric inflammatory bowel disease

(2015) I. Mukhopadhya et al.   MICROBES AND INFECTION

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

(2015) Kerry Dobbs et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mongersen, an Oral SMAD7 Antisense Oligonucleotide, and Crohn’s Disease

(2015) Giovanni Monteleone et al.   NEW ENGLAND JOURNAL OF MEDICINE

Differential Effect of Genetic Burden on Disease Phenotypes in Crohn's Disease and Ulcerative Colitis: Analysis of a North American Cohort

(2014) Ashwin N Ananthakrishnan et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

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

(2014) E. M. Haapaniemi et al.   BLOOD

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

(2014) J. D. Milner et al.   BLOOD

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency

(2014) S. Ammann et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

RAG1 deficiency with a shifting B cell phenotype and chromosomal instability

(2014) Sujal Ghosh et al.   CLINICAL IMMUNOLOGY

Standardized Recording of Parameters Related to the Natural History of Inflammatory Bowel Disease: From Montreal to Paris

(2014) Jeffrey S. Hyams   DIGESTIVE DISEASES

Study of Mendelian forms of Crohn's disease in Saudi Arabia reveals novel risk loci and alleles

(2014) Nisha Patel et al.   GUT

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

Role of Genetics in Pediatric Inflammatory Bowel Disease

(2014) David T. Okou et al.   INFLAMMATORY BOWEL DISEASES

Severe inflammatory bowel disease associated with congenital alteration of transforming growth factor beta signaling

(2014) Samuele Naviglio et al.   Journal of Crohns & Colitis

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

An inherited mutation inNLRC4causes autoinflammation in human and mice

(2014) Akiko Kitamura et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Targeted gene panel sequencing in children with very early onset inflammatory bowel disease—evaluation and prospective analysis

(2014) Jochen Kammermeier et al.   JOURNAL OF MEDICAL GENETICS

Guidelines for investigating causality of sequence variants in human disease

(2014) D. G. MacArthur et al.   NATURE

Genetic and epigenetic fine mapping of causal autoimmune disease variants

(2014) Kyle Kai-How Farh et al.   NATURE

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Advances in IBD genetics

(2014) Johan Van Limbergen et al.   Nature Reviews Gastroenterology & Hepatology

Human genetics of tuberculosis: a long and winding road

(2014) L. Abel et al.   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

The NOD2 p.Leu1007fsX1008 Mutation (rs2066847) Is a Stronger Predictor of the Clinical Course of Crohn's Disease than the FOXO3A Intron Variant rs12212067

(2014) Fabian Schnitzler et al.   PLoS One

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Innate Immune Activity Conditions the Effect of Regulatory Variants upon Monocyte Gene Expression

(2014) B. P. Fairfax et al.   SCIENCE

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

Human SNP Links Differential Outcomes in Inflammatory and Infectious Disease to a FOXO3-Regulated Pathway

(2013) James C. Lee et al.   CELL

TGF-Beta Signaling Manipulation as Potential Therapy for IBD

(2013) Irene Marafini et al.   CURRENT DRUG TARGETS

Association Between Variants of PRDM1 and NDP52 and Crohn's Disease, Based on Exome Sequencing and Functional Studies

(2013) David Ellinghaus et al.   GASTROENTEROLOGY

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

(2013) Holm H Uhlig   GUT

Colitis and Colon Cancer in WASP-Deficient Mice Require Helicobacter Species

(2013) Deanna D. Nguyen et al.   INFLAMMATORY BOWEL DISEASES

Angiotensin II–dependent TGF-β signaling contributes to Loeys-Dietz syndrome vascular pathogenesis

(2013) Elena M. Gallo et al.   JOURNAL OF CLINICAL INVESTIGATION

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

(2013) Karen A. Hunt et al.   NATURE

TGF  Receptor Mutations Impose a Strong Predisposition for Human Allergic Disease

(2013) P. A. Frischmeyer-Guerrerio et al.   Science Translational Medicine

Impact of exome sequencing in inflammatory bowel disease

(2013) Christopher J Cardinale   WORLD JOURNAL OF GASTROENTEROLOGY

Crohn’s disease and the mycobacterioses: A quarter century later. Causation or simple association?

(2012) Rodrick J. Chiodini et al.   CRITICAL REVIEWS IN MICROBIOLOGY

Loss of Interleukin-10 Signaling and Infantile Inflammatory Bowel Disease: Implications for Diagnosis and Therapy

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

(2012) Ozden Sanal et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Cytosolic flagellin receptor NLRC4 protects mice against mucosal and systemic challenges

(2012) F A Carvalho et al.   Mucosal Immunology

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

(2012) Luke Jostins et al.   NATURE

New IBD genetics: common pathways with other diseases

(2011) C. W. Lees et al.   GUT

Infantile Colitis as a Novel Presentation of Familial Mediterranean Fever Responding to Colchicine Therapy

(2011) Odul Egritas et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

The NLRC4 inflammasome receptors for bacterial flagellin and type III secretion apparatus

(2011) Yue Zhao et al.   NATURE

Intestinal homeostasis and its breakdown in inflammatory bowel disease

(2011) Kevin J. Maloy et al.   NATURE

Genetics and pathogenesis of inflammatory bowel disease

(2011) Bernard Khor et al.   NATURE

Identification of two new loci at IL23R and RAB32 that influence susceptibility to leprosy

(2011) Furen Zhang et al.   NATURE GENETICS

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

(2011) Manuel A Rivas et al.   NATURE GENETICS

Ulcerative Colitis

(2011) Silvio Danese et al.   NEW ENGLAND JOURNAL OF MEDICINE

Trans-Endocytosis of CD80 and CD86: A Molecular Basis for the Cell-Extrinsic Function of CTLA-4

(2011) O. S. Qureshi et al.   SCIENCE

Inflammatory Bowel Disease

(2010) Arthur Kaser et al.   Annual Review of Immunology

Penetrance of NOD2/CARD15 genetic variants in the general population

(2010) S. Yazdanyar et al.   CANADIAN MEDICAL ASSOCIATION JOURNAL

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Crohn’s Disease: an Immune Deficiency State

(2009) Daniel J. B. Marks et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Refractory Colitis Following Anti-CTLA4 Antibody Therapy: Analysis of Mucosal FOXP3+ T Cells

(2009) James D. Lord et al.   DIGESTIVE DISEASES AND SCIENCES

Human genetics of infectious diseases: between proof of principle and paradigm

(2009) Alexandre Alcaïs et al.   JOURNAL OF CLINICAL INVESTIGATION

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Genomewide Association Study of Leprosy

(2009) Fu-Ren Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Contributions of IBD5, IL23R, ATG16L1, and NOD2 to Crohnʼs disease risk in a population-based case-control study: Evidence of gene–gene interactions

(2008) Toshihiko Okazaki et al.   INFLAMMATORY BOWEL DISEASES

Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility

(2008) Andre Franke et al.   NATURE GENETICS

Detecting shared pathogenesis from the shared genetics of immune-related diseases

(2008) Alexandra Zhernakova et al.   NATURE REVIEWS GENETICS