Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD

Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing

(2016) James J. Ashton et al.   INFLAMMATORY BOWEL DISEASES

The diagnosis and outcomes of persistent diarrhea in infants aged 0-24 months - A Turkish cohort study

(2016) Odul EGRITAS et al.   Turkish Journal of Gastroenterology

DOCK8 Deficiency: Clinical and Immunological Phenotype and Treatment Options - a Review of 136 Patients

(2015) Susanne E. Aydin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Evaluation of Intestinal Biopsies for Pediatric Enteropathy

(2014) Brock A. Martin et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Gastrointestinal Biopsy Findings of Autoimmune Enteropathy

(2014) Ricard Masia et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Loss of Syntaxin 3 Causes Variant Microvillus Inclusion Disease

(2014) Caroline L. Wiegerinck et al.   GASTROENTEROLOGY

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

Inhibitors of apoptosis (IAPs) regulate intestinal immunity and inflammatory bowel disease (IBD) inflammation

(2014) Jannie Pedersen et al.   TRENDS IN MOLECULAR MEDICINE

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders

(2013) James W. Verbsky et al.   CURRENT OPINION IN PEDIATRICS

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

(2013) Holm H Uhlig   GUT

Absence of cell-surface EpCAM in congenital tufting enteropathy

(2013) Ulrike Schnell et al.   HUMAN MOLECULAR GENETICS

Loss of both phospholipid and triglyceride transfer activities of microsomal triglyceride transfer protein in abetalipoproteinemia

(2013) Irani Khatun et al.   JOURNAL OF LIPID RESEARCH

Pediatric autoimmune enteropathy: an entity frequently associated with immunodeficiency disorders

(2013) Aatur D Singhi et al.   MODERN PATHOLOGY

Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome

(2013) Vito Lampasona et al.   PLoS One

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

(2012) Gianluca Terrin et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

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

(2012) Luke Jostins et al.   NATURE

Histopathologic Diagnosis of Eosinophilic Conditions in the Gastrointestinal Tract

(2011) Jennifer M. Hurrell et al.   ADVANCES IN ANATOMIC PATHOLOGY

Inflammatory bowel disease: is it a primary immunodeficiency?

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

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

Rab11 Is a Useful Tool for the Diagnosis of Microvillous Inclusion Disease

(2011) Geoffrey Talmon et al.   INTERNATIONAL JOURNAL OF SURGICAL PATHOLOGY

Loss of Enteroendocrine Cells in Autoimmune-Polyendocrine-Candidiasis-Ectodermal-Dystrophy (APECED) Syndrome with Gastrointestinal Dysfunction

(2011) C. Posovszky et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Intractable Diarrhea With Tufting Enteropathy: A Favorable Outcome Is Possible

(2011) Julie Lemale et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Functional Characterization of Mutations in the Myosin Vb Gene Associated With Microvillus Inclusion Disease

(2011) Agata M Szperl et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Microvillous Inclusion Disease—An Ultrastructural Diagnosis: With a Review of the Literature

(2011) Shaila R. Khubchandani et al.   ULTRASTRUCTURAL PATHOLOGY

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

The Management of Gastrointestinal Disease in Hermansky-Pudlak Syndrome

(2010) Adrian J. Mora et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Recognizing Gastrointestinal and Hepatic Manifestations of Primary Immunodeficiency Diseases

(2010) Anthony L Guerrerio et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

(2010) Noel Peretti et al.   Orphanet Journal of Rare Diseases

An infant with severe refractory Crohn’s disease and homozygous MEFV mutation who dramatically responded to colchicine

(2010) Zarife Kuloğlu et al.   RHEUMATOLOGY INTERNATIONAL

Anti-Goblet Cell Antibodies for the Diagnosis of Autoimmune Enteropathy?

(2009) Federico Biagi et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

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

An update on food allergy

(2009) Marcus Shaker et al.   CURRENT OPINION IN PEDIATRICS

Histopathology Associated with Eosinophilic Gastrointestinal Diseases

(2009) Margaret H. Collins   IMMUNOLOGY AND ALLERGY CLINICS OF NORTH AMERICA

Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1): a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity

(2009) O. Kämpe   JOURNAL OF INTERNAL MEDICINE

Abetalipoproteinemia

(2009) Denise Pautler et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

Autoimmune enteropathy in children and adults

(2009) Massimo Montalto et al.   SCANDINAVIAN JOURNAL OF GASTROENTEROLOGY

IBD and IBD mimicking enterocolitis in children younger than 2 years of age

(2008) Z. Cannioto et al.   EUROPEAN JOURNAL OF PEDIATRICS

Identification of EpCAM as the Gene for Congenital Tufting Enteropathy

(2008) Mamata Sivagnanam et al.   GASTROENTEROLOGY

Eosinophilic Gastroenteritis

(2008) Seema Khan et al.   GASTROENTEROLOGY CLINICS OF NORTH AMERICA

Inflammatory Manifestations in Chronic Granulomatous Disease (CGD)

(2008) S. D. Rosenzweig   JOURNAL OF CLINICAL IMMUNOLOGY

Use of Sirolimus in IPEX and IPEX-Like Children

(2008) Pierre L. Yong et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Digestive histopathological presentation of IPEX syndrome

(2008) Natacha Patey-Mariaud de Serre et al.   MODERN PATHOLOGY

MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity

(2008) Thomas Müller et al.   NATURE GENETICS