IPEX Syndrome: Genetics and Treatment Options

Molecular feature and therapeutic perspectives of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2020) Qianru Huang et al.   Journal of Genetics and Genomics

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review

(2020) Jae Hyon Park et al.   AUTOIMMUNITY REVIEWS

T cell gene therapy to treat immunodeficiency

(2020) Neelam Panchal et al.   BRITISH JOURNAL OF HAEMATOLOGY

Transcription factor Foxp1 regulates Foxp3 chromatin binding and coordinates regulatory T cell function

(2019) Catherine Konopacki et al.   NATURE IMMUNOLOGY

Functional reprogramming of regulatory T cells in the absence of Foxp3

(2019) Louis-Marie Charbonnier et al.   NATURE IMMUNOLOGY

The Long Non-coding RNA Flatr Anticipates Foxp3 Expression in Regulatory T Cells

(2018) Aleksandra Brajic et al.   Frontiers in Immunology

Ring finger protein 31–mediated atypical ubiquitination stabilizes forkhead box P3 and thereby stimulates regulatory T-cell function

(2018) Fuxiang Zhu et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2018) Eleonora Gambineri et al.   Frontiers in Immunology

Gene therapy for blood diseases

(2018) Donald B Kohn   CURRENT OPINION IN BIOTECHNOLOGY

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

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

(2017) Jessica L Hwang et al.   PEDIATRIC DIABETES

Flicr, a long noncoding RNA, modulates Foxp3 expression and autoimmunity

(2017) David Zemmour et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Forkhead-Box-P3 Gene Transfer in Human CD4+ T Conventional Cells for the Generation of Stable and Efficient Regulatory T Cells, Suitable for Immune Modulatory Therapy

(2017) Laura Passerini et al.   Frontiers in Immunology

Atypical Late-Onset Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome with Intractable Diarrhea: A Case Report

(2017) Ting Ge 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

USP21 prevents the generation of T-helper-1-like Treg cells

(2016) Yangyang Li et al.   Nature Communications

A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages

(2015) William Rae et al.   CLINICAL IMMUNOLOGY

DNA binding by FOXP3 domain-swapped dimer suggests mechanisms of long-range chromosomal interactions

(2015) Yongheng Chen et al.   NUCLEIC ACIDS RESEARCH

FOXP3 is a direct target of miR15a/16 in umbilical cord blood regulatory T cells

(2014) X Liu et al.   BONE MARROW TRANSPLANTATION

Development and Applications of CRISPR-Cas9 for Genome Engineering

(2014) Patrick D. Hsu et al.   CELL

Epigenetic control of thymic Treg-cell development

(2014) Yohko Kitagawa et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Targeted genome editing in human repopulating haematopoietic stem cells

(2014) Pietro Genovese et al.   NATURE

Human IL2RA null mutation mediates immunodeficiency with lymphoproliferation and autoimmunity

(2013) Kevin Goudy et al.   CLINICAL IMMUNOLOGY

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

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

The Ubiquitin Ligase Stub1 Negatively Modulates Regulatory T Cell Suppressive Activity by Promoting Degradation of the Transcription Factor Foxp3

(2013) Zuojia Chen et al.   IMMUNITY

MicroRNA-126 regulates the induction and function of CD4+Foxp3+regulatory T cells through PI3K/AKT pathway

(2013) Andong Qin et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Reading Frame Correction by Targeted Genome Editing Restores Dystrophin Expression in Cells From Duchenne Muscular Dystrophy Patients

(2013) David G Ousterout et al.   MOLECULAR THERAPY

Nuclease-mediated gene editing by homologous recombination of the human globin locus

(2013) Richard A. Voit et al.   NUCLEIC ACIDS RESEARCH

Selective expansion of donor-derived regulatory T cells after allogeneic bone marrow transplantation in a patient with IPEX syndrome

(2013) Satoshi Horino et al.   PEDIATRIC TRANSPLANTATION

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

(2013) Vito Lampasona et al.   PLoS One

CD4+ T Cells from IPEX Patients Convert into Functional and Stable Regulatory T Cells by FOXP3 Gene Transfer

(2013) L. Passerini et al.   Science Translational Medicine

Structural and Biological Features of FOXP3 Dimerization Relevant to Regulatory T Cell Function

(2012) Xiaomin Song et al.   Cell Reports

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

(2012) Federica Barzaghi et al.   Frontiers in Immunology

Functional type 1 regulatory T cells develop regardless of FOXP3 mutations in patients with IPEX syndrome

(2011) Laura Passerini et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

(2011) Hozefa S. Bandukwala et al.   IMMUNITY

Human ITCH E3 Ubiquitin Ligase Deficiency Causes Syndromic Multisystem Autoimmune Disease

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

Autoimmune polyglandular syndromes

(2010) Aaron W. Michels et al.   Nature Reviews Endocrinology

Human Antigen-Specific Regulatory T Cells Generated by T Cell Receptor Gene Transfer

(2010) Todd M. Brusko et al.   PLoS One

Selective engraftment of donor CD4+25high FOXP3-positive T cells in IPEX syndrome after nonmyeloablative hematopoietic stem cell transplantation

(2009) M. G. Seidel et al.   BLOOD

Epigenetic mechanisms of regulation of Foxp3 expression

(2009) G. Lal et al.   BLOOD

Wild-type FOXP3 is selectively active in CD4+CD25hi regulatory T cells of healthy female carriers of different FOXP3 mutations

(2009) S. Di Nunzio et al.   BLOOD

Regulation of Treg functionality by acetylation-mediated Foxp3 protein stabilization

(2009) J. van Loosdregt et al.   BLOOD

Redirecting human CD4+CD25+ regulatory T cells from the peripheral blood with pre-defined target specificity

(2009) A A Hombach et al.   GENE THERAPY

Instability of the transcription factor Foxp3 leads to the generation of pathogenic memory T cells in vivo

(2009) Xuyu Zhou et al.   NATURE IMMUNOLOGY

Absence of Leucine Zipper in the Natural FOXP3Δ2Δ7 Isoform Does Not Affect Dimerization but Abrogates Suppressive Capacity

(2009) Reiner K. W. Mailer et al.   PLoS One

Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome

(2008) M. Halabi-Tawil et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Selective miRNA disruption in T reg cells leads to uncontrolled autoimmunity

(2008) Xuyu Zhou et al.   JOURNAL OF EXPERIMENTAL MEDICINE

TGF-β-induced Foxp3 inhibits TH17 cell differentiation by antagonizing RORγt function

(2008) Liang Zhou et al.   NATURE

Immune Reconstitution and Recovery of FOXP3 (Forkhead Box P3)-Expressing T Cells After Transplantation for IPEX (Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Syndrome

(2008) H. Zhan et al.   PEDIATRICS

Generation of Potent and Stable Human CD4+ T Regulatory Cells by Activation-independent Expression of FOXP3

(2007) Sarah E Allan et al.   MOLECULAR THERAPY