Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

(2018) Jennifer W. Leiding et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective study

(2018) Federica Barzaghi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Alternative Splicing of FOXP3—Virtue and Vice

(2018) Reiner K. W. Mailer   Frontiers in Immunology

Homozygous Mutation on the β-Globin Polyadenylation Signal in a Tunisian Patient with β-Thalassemia Intermedia and Coinheritance of Gilbert’s Syndrome

(2017) Faten Haddad et al.   HEMOGLOBIN

Absence of functional fetal regulatory T cells in humans causes in utero organ-specific autoimmunity

(2017) Eric J. Allenspach 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

DOCK8 Deficiency Presenting as an IPEX-Like Disorder

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

Humoral Immunodeficiency with Hypotonia, Feeding Difficulties, Enteropathy, and Mild Eczema Caused by a Classical FOXP3 Mutation

(2017) Paul Tuijnenburg et al.   Frontiers in Pediatrics

From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation

(2016) Rosa Bacchetta et al.   Annals of the New York Academy of Sciences

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome

(2016) Roger Colobran et al.   CLINICAL IMMUNOLOGY

T Regulatory Cell Biology in Health and Disease

(2016) Fayhan J. Alroqi et al.   CURRENT ALLERGY AND ASTHMA REPORTS

Hematopoietic stem cell transplantation for CTLA4 deficiency

(2016) Mary A. Slatter et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Autoimmunity and Primary Immunodeficiency Disorders

(2016) Eric Allenspach et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Quantitative analysis of tissue inflammation and responses to treatment in immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome, and review of literature

(2016) Chih-An Chen et al.   JOURNAL OF MICROBIOLOGY IMMUNOLOGY AND INFECTION

Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype

(2016) Wen-I Lee et al.   MEDICINE

Altered balance between self-reactive T helper (Th)17 cells and Th10 cells and between full-length forkhead box protein 3 (FoxP3) and FoxP3 splice variants in Hashimoto's thyroiditis

(2015) B. Kristensen et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

The immunological and genetic basis of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2015) Khalid Bin Dhuban et al.   Current Opinion in Allergy and Clinical Immunology

Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like disorder caused by loss-of-function mutations in LRBA

(2015) Louis-Marie Charbonnier et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Spectrum of Phenotypes Associated with Mutations in LRBA

(2015) Omar K. Alkhairy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Control of Regulatory T Cell Migration, Function, and Homeostasis

(2015) Daniel J. Campbell   JOURNAL OF IMMUNOLOGY

Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease

(2015) Qing Zhou et al.   NATURE GENETICS

Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR

(2015) Hui Yang et al.   Nature Protocols

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

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

Multiple intestinal atresia with combined immune deficiency

(2014) Luigi D. Notarangelo   CURRENT OPINION IN PEDIATRICS

Regulatory T cells and immune regulation of allergic diseases: roles of IL-10 and TGF-β

(2014) O Palomares et al.   GENES AND IMMUNITY

Homeostasis and function of regulatory T cells (Tregs)in vivo: lessons from TCR-transgenic Tregs

(2014) Kesley Attridge et al.   IMMUNOLOGICAL REVIEWS

Clinical Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation

(2014) Safa Baris et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A human immunodeficiency caused by mutations in the PIK3R1 gene

(2014) Marie-Céline Deau et al.   JOURNAL OF CLINICAL INVESTIGATION

Exome Sequencing Identifies a Novel FOXP3 Mutation in a 2-Generation Family With Inflammatory Bowel Disease

(2014) David T. Okou et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Phenotypic heterogeneity in monogenic diabetes: The clinical and diagnostic utility of a gene panel-based next-generation sequencing approach

(2014) G. Alkorta-Aranburu et al.   MOLECULAR GENETICS AND METABOLISM

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

(2014) H. S. Kuehn et al.   SCIENCE

Implications of polyadenylation in health and disease

(2014) Ana Curinha et al.   Nucleus

Single centre experience of haematopoietic SCT for patients with immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2013) Z Nademi et al.   BONE MARROW TRANSPLANTATION

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

(2013) Kevin Goudy et al.   CLINICAL IMMUNOLOGY

Development and Maintenance of Regulatory T cells

(2013) Naganari Ohkura et al.   IMMUNITY

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

Combined DOCK8 and CLEC7A mutations causing immunodeficiency in 3 brothers with diarrhea, eczema, and infections

(2013) Darrell L. Dinwiddie 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

Helios+ and Helios- Cells Coexist within the Natural FOXP3+ T Regulatory Cell Subset in Humans

(2013) M. E. Himmel et al.   JOURNAL OF IMMUNOLOGY

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

(2013) Carrie L Lucas et al.   NATURE IMMUNOLOGY

Phosphoinositide 3-Kinase   Gene Mutation Predisposes to Respiratory Infection and Airway Damage

(2013) I. Angulo et al.   SCIENCE

Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain

(2012) S. Takezaki et al.   JOURNAL OF IMMUNOLOGY

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

(2012) Federica Barzaghi et al.   Frontiers in Immunology

The STAT5b Pathway Defect and Autoimmunity

(2012) Takahiro Kanai et al.   Frontiers in Immunology

Autoantibodies to villin occur frequently in IPEX, a severe immune dysregulation, syndrome caused by mutation of FOXP3

(2011) Ichiro Kobayashi et al.   CLINICAL IMMUNOLOGY

Identification of FOXP3-negative regulatory T-like (CD4+CD25+CD127low) cells in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2011) Keisuke Otsubo et al.   CLINICAL IMMUNOLOGY

Structure of a Domain-Swapped FOXP3 Dimer on DNA and Its Function in Regulatory T Cells

(2011) Hozefa S. Bandukwala et al.   IMMUNITY

Forkhead box protein 3 (FOXP3) mutations lead to increased TH17 cell numbers and regulatory T-cell instability

(2011) Laura Passerini et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Clinical and Molecular Characteristics of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome in China

(2011) Y.-F. An et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

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

(2010) Jane Louise Hartley et al.   GASTROENTEROLOGY

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Stable hematopoietic cell engraftment after low-intensity nonmyeloablative conditioning in patients with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2010) Lauri M. Burroughs et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Point mutants of forkhead box P3 that cause immune dysregulation, polyendocrinopathy, enteropathy, X-linked have diverse abilities to reprogram T cells into regulatory T cells

(2010) Alicia N. McMurchy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The spectrum of autoantibodies in IPEX syndrome is broad and includes anti-mitochondrial autoantibodies

(2010) Masanobu Tsuda et al.   JOURNAL OF AUTOIMMUNITY

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome

(2010) Radu Harbuz et al.   PRENATAL DIAGNOSIS

Mutation analysis in primary immunodeficiency diseases: case studies

(2009) Amy P Hsu et al.   Current Opinion in Allergy and Clinical Immunology

FOXP3 expression following bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning

(2009) Morna J. Dorsey et al.   IMMUNOLOGIC RESEARCH

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

FOXP3 Inhibits Activation-Induced NFAT2 Expression in T Cells Thereby Limiting Effector Cytokine Expression

(2009) T. R. Torgerson et al.   JOURNAL OF IMMUNOLOGY

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

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

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE

Minimal change nephrotic syndrome associated with immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2009) Yuya Hashimura et al.   PEDIATRIC NEPHROLOGY

Heterogeneity of natural Foxp3+T cells: A committed regulatory T-cell lineage and an uncommitted minor population retaining plasticity

(2009) Noriko Komatsu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Clinical Heterogeneity in Patients With FOXP3 Mutations Presenting With Permanent Neonatal Diabetes

(2008) O. Rubio-Cabezas et al.   DIABETES CARE

Forced overexpression of either of the two common human Foxp3 isoforms can induce regulatory T cells from CD4+CD25– cells

(2008) Tineke Aarts-Riemens et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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