Gastrointestinal Disorders Associated with Primary Immunodeficiency Diseases

Infliximab Is Not Associated With Increased Risk of Malignancy or Hemophagocytic Lymphohistiocytosis in Pediatric Patients With Inflammatory Bowel Disease

(2017) Jeffrey S. Hyams et al.   GASTROENTEROLOGY

Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

(2017) Máire A. Conrad et al.   INFLAMMATORY BOWEL DISEASES

Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea

(2017) Britt-Sabina Petersen et al.   INFLAMMATORY BOWEL DISEASES

Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation

(2017) M. Teresa de la Morena et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition

(2017) Scott W. Canna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

(2017) Asbjørg Stray-Pedersen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gastrointestinal Manifestations of STAT3-Deficient Hyper-IgE Syndrome

(2017) Manish Arora et al.   JOURNAL OF CLINICAL IMMUNOLOGY

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

(2017) Fayhan J. Alroqi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Chronic Diarrhea in Common Variable Immunodeficiency: a Case Series and Review of the Literature

(2017) Antonio Pecoraro et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Gastrointestinal Manifestations in X-linked Agammaglobulinemia

(2017) Sara Barmettler et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome

(2017) Fabio Candotti   JOURNAL OF CLINICAL IMMUNOLOGY

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inflammatory bowel disease caused by primary immunodeficiencies-Clinical presentations, review of literature, and proposal of a rational diagnostic algorithm

(2017) Daniel Tegtmeyer et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

CHAI and LATAIE: new genetic diseases of CTLA-4 checkpoint insufficiency

(2016) B. Lo et al.   BLOOD

Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

(2016) Christian Klemann et al.   CLINICAL IMMUNOLOGY

How genetic testing can lead to targeted management of XIAP deficiency–related inflammatory bowel disease

(2016) Ole Haagen Nielsen et al.   GENETICS IN MEDICINE

NEMO Prevents RIP Kinase 1-Mediated Epithelial Cell Death and Chronic Intestinal Inflammation by NF-κB-Dependent and -Independent Functions

(2016) Katerina Vlantis et al.   IMMUNITY

Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4

(2016) Sangmoon Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The extended phenotype of LPS-responsive beige-like anchor protein (LRBA) deficiency

(2016) Laura Gámez-Díaz et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hyper IgM Syndrome: a Report from the USIDNET Registry

(2016) Emily A. Leven et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years

(2016) Jochen Kammermeier et al.   Journal of Crohns & Colitis

Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation

(2016) S F Jørgensen et al.   Mucosal Immunology

Infection is the major trigger of hemophagocytic syndrome in adult patients treated with biological therapies

(2016) Pilar Brito-Zerón et al.   SEMINARS IN ARTHRITIS AND RHEUMATISM

Cancers Related to Immunodeficiencies: Update and Perspectives

(2016) Esmaeil Mortaz et al.   Frontiers in Immunology

International Consensus Document (ICON): Common Variable Immunodeficiency Disorders

(2016) Francisco A. Bonilla et al.   Journal of Allergy and Clinical Immunology-In Practice

The Role Of Chronic Norovirus Infection In The Enteropathy Associated With Common Variable Immunodeficiency

(2015) Jeremy M Woodward et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome

(2015) Natsuko Chida et al.   CLINICAL IMMUNOLOGY

The clinical features of autoimmunity in 53 patients with Wiskott–Aldrich syndrome in China: a single-center study

(2015) Nan Chen et al.   EUROPEAN JOURNAL OF PEDIATRICS

379 Expression of NOTCH Signaling Molecules in Barrett's Associated Adenocarcinoma

(2015) Dan Li et al.   GASTROENTEROLOGY

X-linked Inhibitor of Apoptosis Protein Deficiency: More than an X-linked Lymphoproliferative Syndrome

(2015) Claire Aguilar et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Immunodeficiency and Autoimmune Enterocolopathy Linked to NFAT5 Haploinsufficiency

(2015) Brigid S. Boland et al.   JOURNAL OF IMMUNOLOGY

Gut biogeography of the bacterial microbiota

(2015) Gregory P. Donaldson et al.   NATURE REVIEWS MICROBIOLOGY

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

(2015) B. Lo et al.   SCIENCE

Evidence that asthma is a developmental origin disease influenced by maternal diet and bacterial metabolites

(2015) Alison N. Thorburn et al.   Nature Communications

Long-term disease course in a patient with severe neonatal IPEX syndrome

(2015) Rémi Duclaux-Loras et al.   Clinics and Research in Hepatology and 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

Incidence, Outcomes, and Health Services Burden of Very Early Onset Inflammatory Bowel Disease

(2014) Eric I. Benchimol et al.   GASTROENTEROLOGY

The Diagnostic Approach to Monogenic Very Early Onset Inflammatory Bowel Disease

(2014) Holm H. Uhlig et al.   GASTROENTEROLOGY

Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United States

(2014) Antonia Kwan et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

(2014) Elisabeth Salzer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease

(2014) Alessandra Magnani et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autoimmunity and Inflammation in X-linked Agammaglobulinemia

(2014) Vivian P. Hernandez-Trujillo et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Increased Prevalence of Gastrointestinal Viruses and Diminished Secretory Immunoglobulin a Levels in Antibody Deficiencies

(2014) A. A. J. M. van de Ven et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

(2014) Desirée Schubert et al.   NATURE MEDICINE

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Gastrointestinal Histopathology in Chronic Granulomatous Disease

(2013) Meghna Alimchandani et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome

(2013) A. Fabre et al.   ARCHIVES OF DISEASE IN CHILDHOOD

Remission of Crohn’s disease after cord blood transplantation for leukocyte adhesion deficiency type 1

(2013) S Jain et al.   BONE MARROW TRANSPLANTATION

Diagnosis and Treatment of Gastrointestinal Disorders in Patients With Primary Immunodeficiency

(2013) Shradha Agarwal et al.   Clinical Gastroenterology and Hepatology

X-linked inhibitor of apoptosis (XIAP) deficiency: The spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis

(2013) C. Speckmann et al.   CLINICAL IMMUNOLOGY

XIAP deficiency is a mendelian cause of late-onset IBD

(2013) Carsten Speckmann et al.   GUT

Cytomegalovirus Disease in Patients with Common Variable Immunodeficiency: Three Case Reports

(2013) Pavlina Kralickova et al.   INTERNATIONAL ARCHIVES OF ALLERGY AND IMMUNOLOGY

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A ( TTC7A ) mutations for combined immunodeficiency with intestinal atresias

(2013) Rui Chen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gastrointestinal Manifestations in APECED Syndrome

(2013) Nicolas Kluger et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

Chronic Granulomatous Disease: A 25-Year Patient Registry Based on a Multistep Diagnostic Procedure, from the Referral Center for Primary Immunodeficiencies in Greece

(2013) Maria Raptaki et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Exome sequencing identifies mutations in the geneTTC7Ain French-Canadian cases with hereditary multiple intestinal atresia

(2013) Mark E Samuels et al.   JOURNAL OF MEDICAL GENETICS

Commensal microbe-derived butyrate induces the differentiation of colonic regulatory T cells

(2013) Yukihiro Furusawa et al.   NATURE

Metabolites produced by commensal bacteria promote peripheral regulatory T-cell generation

(2013) Nicholas Arpaia et al.   NATURE

Persistent defective membrane trafficking in epithelial cells of patients with familial hemophagocytic lymphohistiocytosis type 5 due toSTXBP2/MUNC18-2mutations

(2013) Polina Stepensky et al.   PEDIATRIC BLOOD & CANCER

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

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

Leukocyte adhesion deficiencies

(2012) Suhair Hanna et al.   Annals of the New York Academy of Sciences

Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans

(2012) Anne Durandy et al.   AUTOIMMUNITY

Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

(2012) J. Pagel et al.   BLOOD

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

(2012) Daniel Kotlarz et al.   GASTROENTEROLOGY

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND IMMUNITY

Clinical outcome in IL-10– and IL-10 receptor–deficient patients with or without hematopoietic stem cell transplantation

(2012) Karin R. Engelhardt 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

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

(2012) Federica Barzaghi et al.   Frontiers in Immunology

Inflammatory bowel disease: is it a primary immunodeficiency?

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

Inflammation and repeated infections in CGD: two sides of a coin

(2011) Taco Kuijpers et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Current Concepts of Hyperinflammation in Chronic Granulomatous Disease

(2011) Nikolaus Rieber et al.   Clinical & Developmental Immunology

Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme

(2011) F. Dhalla et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Rising incidence of pediatric inflammatory bowel disease in Scotland*

(2011) Paul Henderson et al.   INFLAMMATORY BOWEL DISEASES

Successful Treatment with Infliximab for Inflammatory Colitis in a Patient with X-linked Anhidrotic Ectodermal Dysplasia with Immunodeficiency

(2011) Tomoyuki Mizukami et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Enteropathy Associated With Common Variable Immunodeficiency: The Delineated Frontiers With Celiac Disease

(2010) Georgia Malamut et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

(2010) Naomi J. Lohr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inflammasome activation in NADPH oxidase defective mononuclear phagocytes from patients with chronic granulomatous disease

(2010) F. Meissner et al.   BLOOD

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

High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease

(2010) Joyce E. Yu et al.   CLINICAL IMMUNOLOGY

Mutations in TTC37 Cause Trichohepatoenteric Syndrome (Phenotypic Diarrhea of Infancy)

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

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

(2010) Shradha Agarwal et al.   INFLAMMATORY BOWEL DISEASES

Pediatric modification of the Montreal classification for inflammatory bowel disease

(2010) Arie Levine et al.   INFLAMMATORY BOWEL DISEASES

Recognizing Gastrointestinal and Hepatic Manifestations of Primary Immunodeficiency Diseases

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

Infant colitis—it's in the genes

(2010) Erik-Oliver Glocker et al.   LANCET

Effective treatment of common variable immunodeficiency associated diarrhea

(2010) H. Córdova Guevara et al.   REVISTA ESPANOLA DE ENFERMEDADES DIGESTIVAS

Gastrointestinal and hepatic manifestations of primary immune deficiency diseases

(2010) SalehZ Al-Muhsen   Saudi Journal of Gastroenterology

Immunologic and clinical features of 25 Amish patients with RMRP 70 A→G cartilage hair hypoplasia

(2009) Nicholas L. Rider et al.   CLINICAL IMMUNOLOGY

Persistent systemic inflammation and atypical enterocolitis in patients with NEMO syndrome

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

Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes

(2009) Perdita Permaul et al.   IMMUNOLOGIC RESEARCH

Pathogenesis and treatment of gastrointestinal disease in antibody deficiency syndromes

(2009) Shradha Agarwal et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

CD4+regulatory T cells require CTLA-4 for the maintenance of systemic tolerance

(2009) Randall H. Friedline et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Severe Gastritis in an Insulin-dependent Child With an IPEX Syndrome

(2009) M Scaillon et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

FOXP3 Forkhead Domain Mutation and Regulatory T Cells in the IPEX Syndrome

(2009) Eva d'Hennezel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

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

A Syndrome with Congenital Neutropenia and Mutations inG6PC3

(2009) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nodular lymphoid hyperplasia and histologic changes mimicking celiac disease, collagenous sprue, and lymphocytic colitis in a patient with selective IgA deficiency

(2009) Mee Joo et al.   PATHOLOGY RESEARCH AND PRACTICE

Chronic Granulomatous Disease: The European Experience

(2009) J. Merlijn van den Berg et al.   PLoS One

Inflammatory Bowel Disease in CGD Reproduces the Clinicopathological Features of Crohn's Disease

(2008) Daniel J B Marks et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Infections in 252 Patients with Common Variable Immunodeficiency

(2008) Eric Oksenhendler et al.   CLINICAL INFECTIOUS DISEASES

Clinical and molecular profile of a new series of patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome: Inconsistent correlation between forkhead box protein 3 expression and disease severity

(2008) Eleonora Gambineri et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Digestive histopathological presentation of IPEX syndrome

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

Hematopoietic stem cell transplantation in a CD3γ-deficient infant with inflammatory bowel disease

(2008) Tuba Turul Özgür et al.   PEDIATRIC TRANSPLANTATION

CTLA-4 Control over Foxp3+ Regulatory T Cell Function

(2008) K. Wing et al.   SCIENCE