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

Epidermolysis bullosa acquisita and inflammatory bowel disease: a review of the literature

(2013) H. Reddy et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Understanding the immunological impact of the human mutation explosion

(2013) T.D. Andrews et al.   TRENDS IN IMMUNOLOGY

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deleterious Mutations in LRBA Are Associated with a Syndrome of Immune Deficiency and Autoimmunity

(2012) Gabriela Lopez-Herrera et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Wiskott–Aldrich Syndrome Protein Deficiency in Innate Immune Cells Leads to Mucosal Immune Dysregulation and Colitis in Mice

(2012) Deanna D. Nguyen et al.   GASTROENTEROLOGY

The Age of Gene Discovery in Very Early Onset Inflammatory Bowel Disease

(2012) Aleixo M. Muise et al.   GASTROENTEROLOGY

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

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Autoimmunity, Intestinal Lymphoid Hyperplasia, and Defects in Mucosal B-Cell Homeostasis in Patients With PTEN Hamartoma Tumor Syndrome

(2012) Mario Heindl et al.   GASTROENTEROLOGY

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

(2012) Katja Christodoulou et al.   GUT

Disease Phenotype at Diagnosis in Pediatric Crohnʼs Disease

(2012) Charlotte I. de Bie et al.   INFLAMMATORY BOWEL DISEASES

Atypical Disease Phenotypes in Pediatric Ulcerative Colitis

(2012) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

(2012) Siobhan O. Burns et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency

(2012) Abdullah Alangari et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inflammatory Bowel Disease and T cell Lymphopenia in G6PC3 Deficiency

(2012) Philippe Bégin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Additional Diverse Findings Expand the Clinical Presentation of DOCK8 Deficiency

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

Clinical and Genetic Characteristics of XIAP Deficiency in Japan

(2012) Xi Yang et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Incidence of inflammatory bowel disease in the province of Styria, Austria, from 1997 to 2007: A population-based study

(2012) W. Petritsch et al.   Journal of Crohns & Colitis

A Novel IL-10-Independent Regulatory Role for B Cells in Suppressing Autoimmunity by Maintenance of Regulatory T Cells via GITR Ligand

(2012) A. Ray et al.   JOURNAL OF IMMUNOLOGY

The role of neutrophils during intestinal inflammation

(2012) B M Fournier et al.   Mucosal Immunology

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

(2012) Luke Jostins et al.   NATURE

Familial Diarrhea Syndrome Caused by an ActivatingGUCY2CMutation

(2012) Torunn Fiskerstrand et al.   NEW ENGLAND JOURNAL OF MEDICINE

Efficacy of interleukin-1-targeting drugs in mevalonate kinase deficiency

(2012) C. Galeotti et al.   RHEUMATOLOGY

The pathogenesis of Hirschsprung’s disease-associated enterocolitis

(2012) Kelly Miller Austin   Seminars in Pediatric Surgery

Pathogenesis of autoimmunity in common variable immunodeficiency

(2012) Klaus Warnatz et al.   Frontiers in Immunology

Autoimmunity in Wiskott–Aldrich Syndrome: An Unsolved Enigma

(2012) Marco Catucci et al.   Frontiers in Immunology

Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A Paradigm of Immunodeficiency with Autoimmunity

(2012) Federica Barzaghi et al.   Frontiers in Immunology

IL-10–Producing Regulatory B10 Cells Inhibit Intestinal Injury in a Mouse Model

(2011) Koichi Yanaba et al.   AMERICAN JOURNAL OF PATHOLOGY

Morbidity and mortality in common variable immune deficiency over 4 decades

(2011) E. S. Resnick et al.   BLOOD

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG

(2011) S. Rigaud et al.   BLOOD

Inflammatory bowel disease: is it a primary immunodeficiency?

(2011) Erik Glocker et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

The expanding spectrum of hemophagocytic lymphohistiocytosis

(2011) Alexandra H. Filipovich   Current Opinion in Allergy and Clinical Immunology

Defective innate immunity in inflammatory bowel disease: a Crohnʼs disease exclusivity?

(2011) Daniel JB Marks   CURRENT OPINION IN GASTROENTEROLOGY

Inflamed gut mucosa: downstream of interleukin-10

(2011) Gregor Paul et al.   EUROPEAN JOURNAL OF CLINICAL INVESTIGATION

Increasing Incidence and Prevalence of the Inflammatory Bowel Diseases With Time, Based on Systematic Review

(2011) Natalie A. Molodecky et al.   GASTROENTEROLOGY

NADPH oxidase complex and IBD candidate gene studies: identification of a rare variant inNCF2that results in reduced binding to RAC2

(2011) Aleixo M Muise et al.   GUT

New IBD genetics: common pathways with other diseases

(2011) C. W. Lees et al.   GUT

Successful allogeneic hematopoietic stem cell transplantation for chronic granulomatous disease with inflammatory complications and severe infection

(2011) Keisuke Kato et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Homozygosity Mapping and Whole-Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

(2011) Andrew R. Cullinane et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Association of Crohn’s Disease, Thiopurines, and Primary Epstein-Barr Virus Infection with Hemophagocytic Lymphohistiocytosis

(2011) Vincent F. Biank et al.   JOURNAL OF PEDIATRICS

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

Inflammatory Skin and Bowel Disease Linked toADAM17Deletion

(2011) Diana C. Blaydon et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mevalonate Kinase Deficiency: A Survey of 50 Patients

(2011) B. Bader-Meunier et al.   PEDIATRICS

Activation-Induced Cytidine Deaminase Expression in CD4+ T Cells is Associated with a Unique IL-10-Producing Subset that Increases with Age

(2011) Hongyan Qin et al.   PLoS One

Are we not over-estimating the prevalence of coeliac disease in the general population?

(2010) Federico Biagi et al.   ANNALS OF MEDICINE

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency)

(2010) J. P. Schmid et al.   BLOOD

Penetrance of NOD2/CARD15 genetic variants in the general population

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

NOD2 polymorphisms in clinical phenotypes of common variable immunodeficiency disorders

(2010) K. Packwood et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Complications of Tumor Necrosis Factor–α Blockade in Chronic Granulomatous Disease–Related Colitis

(2010) Gulbu Uzel et al.   CLINICAL INFECTIOUS DISEASES

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease

(2010) Elizabeth A Worthey et al.   GENETICS IN MEDICINE

Genetics of childhood-onset inflammatory bowel disease

(2010) Paul Henderson et al.   INFLAMMATORY BOWEL DISEASES

Characterization of immunologic defects in patients with common variable immunodeficiency (CVID) with intestinal disease

(2010) Shradha Agarwal et al.   INFLAMMATORY BOWEL DISEASES

Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease

(2010) Folke Freudenberg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Critical role of the disintegrin metalloprotease ADAM17 for intestinal inflammation and regeneration in mice

(2010) Athena Chalaris et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Hirschsprung-associated enterocolitis develops independently of NOD2 variants

(2010) Martin Lacher et al.   JOURNAL OF PEDIATRIC SURGERY

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Stem-Cell Gene Therapy for the Wiskott–Aldrich Syndrome

(2010) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40phox and selective defects in neutrophil NADPH oxidase activity

(2009) J. D. Matute et al.   BLOOD

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

(2009) Laurence E. Cheng et al.   CLINICAL IMMUNOLOGY

Crohn’s Disease: an Immune Deficiency State

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

ADAM17 as a Therapeutic Target in Multiple Diseases

(2009) Joaquin Arribas et al.   CURRENT PHARMACEUTICAL DESIGN

Chronic Inflammatory Bowel Disease as Key Manifestation of Atypical ARTEMIS Deficiency

(2009) Jan Rohr et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Frequency of indeterminate colitis in children and adults with IBD — a metaanalysis

(2009) Freerk Prenzel et al.   Journal of Crohns & Colitis

Disordered macrophage cytokine secretion underlies impaired acute inflammation and bacterial clearance in Crohn's disease

(2009) Andrew M. Smith et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Impaired CD4 and CD8 Effector Function and Decreased Memory T Cell Populations in ICOS-Deficient Patients

(2009) N. Takahashi et al.   JOURNAL OF IMMUNOLOGY

Common variants at five new loci associated with early-onset inflammatory bowel disease

(2009) Marcin Imielinski et al.   NATURE GENETICS

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Gastrointestinal complications of epidermolysis bullosa in children

(2008) E.B. Freeman et al.   BRITISH JOURNAL OF DERMATOLOGY

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

(2008) Arthur Kaser et al.   CELL

Tricho-hepato-enteric syndrome presenting with mild colitis

(2008) Odul Egritas et al.   EUROPEAN JOURNAL OF PEDIATRICS

Definition of Phenotypic Characteristics of Childhood-Onset Inflammatory Bowel Disease

(2008) Johan Van Limbergen et al.   GASTROENTEROLOGY

Inflammatory bowel disease in children and adolescents in Italy: Data from the pediatric national IBD register (1996–2003)

(2008) M. Castro et al.   INFLAMMATORY BOWEL DISEASES

Accumulation, activation, and survival of neutrophils in ulcerative colitis: regulation by locally produced factors in the colon and impact of steroid treatment

(2008) Maria Lampinen et al.   INTERNATIONAL JOURNAL OF COLORECTAL DISEASE

Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-κB essential modulator deficiency

(2008) Sung-Yun Pai et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2008) Andre Franke et al.   NATURE GENETICS