From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulation (Q34515848)

2 August 2017

title

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

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2 August 2017

Rosa Bacchetta

1

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2 August 2017

Federica Barzaghi

series ordinal

2

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2 August 2017

Maria-Grazia Roncarolo

series ordinal

3

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2 August 2017

language of work or name

English

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publication date

25 February 2016

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Annals of the New York Academy of Sciences

2 August 2017

published in

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An X-linked syndrome of diarrhea, polyendocrinopathy, and fatal infection in infancy.

2 August 2017

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X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

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Disease in the scurfy (sf) mouse is associated with overexpression of cytokine genes

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The amount of scurfin protein determines peripheral T cell number and responsiveness

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An essential role for Scurfin in CD4+CD25+ T regulatory cells

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The life of regulatory T cells

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Selective miRNA disruption in T reg cells leads to uncontrolled autoimmunity

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FOXP3: of mice and men.

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Subcellular localization of FOXP3 in human regulatory and nonregulatory T cells

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Epigenetic mechanisms of regulation of Foxp3 expression

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Epigenetic control of thymic Treg-cell development

21 January 2018

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Development and maintenance of regulatory T cells

21 January 2018

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Role of conserved non-coding DNA elements in the Foxp3 gene in regulatory T-cell fate

21 January 2018

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FOXP3 promoter demethylation reveals the committed Treg population in humans.

21 January 2018

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The ligase PIAS1 restricts natural regulatory T cell differentiation by epigenetic repression

21 January 2018

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Novel Foxo1-dependent transcriptional programs control T(reg) cell function

21 January 2018

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Smad3 and NFAT cooperate to induce Foxp3 expression through its enhancer

21 January 2018

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Extrathymically generated regulatory T cells control mucosal TH2 inflammation

21 January 2018

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DNA demethylation in the human FOXP3 locus discriminates regulatory T cells from activated FOXP3(+) conventional T cells.

21 January 2018

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Active demethylation of the Foxp3 locus leads to the generation of stable regulatory T cells within the thymus.

21 January 2018

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Control of the inheritance of regulatory T cell identity by a cis element in the Foxp3 locus

21 January 2018

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Runx-CBFbeta complexes control expression of the transcription factor Foxp3 in regulatory T cells

21 January 2018

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Function of a Foxp3 cis-element in protecting regulatory T cell identity

21 January 2018

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Cutting edge: CD28 and c-Rel-dependent pathways initiate regulatory T cell development.

21 January 2018

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Epigenetic and transcriptional control of Foxp3+ regulatory T cells

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

Genome-wide analysis of Foxp3 target genes in developing and mature regulatory T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Eos mediates Foxp3-dependent gene silencing in CD4+ regulatory T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

FOXP3 interactions with histone acetyltransferase and class II histone deacetylases are required for repression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

TGF-beta-induced Foxp3 inhibits T(H)17 cell differentiation by antagonizing RORgammat function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Isoform-specific inhibition of ROR alpha-mediated transcriptional activation by human FOXP3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

FOXP3 controls regulatory T cell function through cooperation with NFAT

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Foxp3 controls regulatory T-cell function by interacting with AML1/Runx1

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Transcription factor Foxp3 and its protein partners form a complex regulatory network

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune dysregulation, polyendocrinopathy, enteropathy, x-linked syndrome: a paradigm of immunodeficiency with autoimmunity

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

The immunogenetics of immune dysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Renal involvement in the immunodysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Familial IPEX syndrome: different glomerulopathy in two siblings.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Fetal-onset IPEX: report of two families and review of literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Dermatologic and immunologic findings in the immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Developmental changes of FOXP3-expressing CD4+CD25+ regulatory T cells and their impairment in patients with FOXP3 gene mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Manifestations and linkage analysis in X-linked autoimmunity-immunodeficiency syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Neonatal diabetes mellitus, enteropathy, thrombocytopenia, and endocrinopathy: Further evidence for an X-linked lethal syndrome.

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

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.

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

Single-cell analysis of normal and FOXP3-mutant human T cells: FOXP3 expression without regulatory T cell development

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical and molecular characteristics of immunodysregulation, polyendocrinopathy, enteropathy, X-linked syndrome in China.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

The role of 2 FOXP3 isoforms in the generation of human CD4+ Tregs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Demethylation analysis of the FOXP3 locus shows quantitative defects of regulatory T cells in IPEX-like syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Defective regulatory and effector T cell functions in patients with FOXP3 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

tTregs, pTregs, and iTregs: similarities and differences

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Peripherally induced tregs - role in immune homeostasis and autoimmunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Expression of interleukin (IL)-2 and IL-7 receptors discriminates between human regulatory and activated T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Human CD4+ regulatory T cells express lower levels of the IL-7 receptor alpha chain (CD127), allowing consistent identification and sorting of live cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

The surface protein TIGIT suppresses T cell activation by promoting the generation of mature immunoregulatory dendritic cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

CTLA-4 control over Foxp3+ regulatory T cell function

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Expression of Helios, an Ikaros transcription factor family member, differentiates thymic-derived from peripherally induced Foxp3+ T regulatory cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Expression of ectonucleotidase CD39 by Foxp3+ Treg cells: hydrolysis of extracellular ATP and immune suppression.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Activation induces rapid and profound alterations in the trafficking of T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Adenosine generation catalyzed by CD39 and CD73 expressed on regulatory T cells mediates immune suppression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Genetic and epigenetic basis of Treg cell development and function: from a FoxP3-centered view to an epigenome-defined view of natural Treg cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Regulated and multiple miRNA and siRNA delivery into primary cells by a lentiviral platform

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Activation-induced FOXP3 in human T effector cells does not suppress proliferation or cytokine production

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Induction of FOXP3 expression in naive human CD4+FOXP3 T cells by T-cell receptor stimulation is transforming growth factor-beta dependent but does not confer a regulatory phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

STAT5-signaling cytokines regulate the expression of FOXP3 in CD4+CD25+ regulatory T cells and CD4+CD25- effector T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A novel function for FOXP3 in humans: intrinsic regulation of conventional T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Accumulation of peripheral autoreactive B cells in the absence of functional human regulatory T cells.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Identification of an autoimmune enteropathy-related 75-kilodalton antigen

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune dysregulation, polyendocrinopathy, enteropathy, and X-linked inheritance (IPEX), a syndrome of systemic autoimmunity caused by mutations of FOXP3, a critical regulator of T-cell homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Digestive histopathological presentation of IPEX syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

T cell-specific inactivation of the interleukin 10 gene in mice results in enhanced T cell responses but normal innate responses to lipopolysaccharide or skin irritation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

IL-10-secreting regulatory T cells do not express Foxp3 but have comparable regulatory function to naturally occurring CD4+CD25+ regulatory T cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Fetal regulatory T cells and peripheral immune tolerance in utero: implications for development and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Identification of new FOXP3 mutations and prenatal diagnosis of IPEX syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

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https://api.crossref.org/works/10.1111%2FNYAS.13011

X-linked immune dysregulation, neonatal insulin dependent diabetes, and intractable diarrhoea

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Treatment of the Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome (IPEX) by Allogeneic Bone Marrow Transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical heterogeneity in patients with FOXP3 mutations presenting with permanent neonatal diabetes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A remarkable depletion of both naïve CD4+ and CD8+ with high proportion of memory T cells in an IPEX infant with a FOXP3 mutation in the forkhead domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Mutational analysis of the FOXP3 gene and evidence for genetic heterogeneity in the immunodysregulation, polyendocrinopathy, enteropathy syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical and molecular aspects of autoimmune enteropathy and immune dysregulation, polyendocrinopathy autoimmune enteropathy X-linked syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Successful bone marrow transplantation for IPEX syndrome after reduced-intensity conditioning.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) associated with pemphigoid nodularis: a case report and review of the literature

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Novel mutations of FOXP3 in two Japanese patients with immune dysregulation, polyendocrinopathy, enteropathy, X linked syndrome (IPEX)

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Clinical and molecular findings in IPEX syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A novel mutation and unusual clinical features in a patient with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Successful use of the new immune-suppressor sirolimus in IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked inheritance: model for autoaggression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Use of sirolimus in IPEX and IPEX-like children

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Late-onset of immunodysregulation, polyendocrinopathy, enteropathy, x-linked syndrome (IPEX) with intractable diarrhea.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A potential screening tool for IPEX syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Severe food allergy as a variant of IPEX syndrome caused by a deletion in a noncoding region of the FOXP3 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Autoantibodies in scurfy mice and IPEX patients recognize keratin 14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Rapamycin promotes expansion of functional CD4+CD25+FOXP3+ regulatory T cells of both healthy subjects and type 1 diabetic patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Generation of potent and stable human CD4+ T regulatory cells by activation-independent expression of FOXP3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Immune reconstitution and recovery of FOXP3 (forkhead box P3)-expressing T cells after transplantation for IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Therapeutic in vivo selection of thymic-derived natural T regulatory cells following non-myeloablative hematopoietic stem cell transplant for IPEX.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A challenging undertaking: Stem cell transplantation for immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Wild-type FOXP3 is selectively active in CD4+CD25(hi) regulatory T cells of healthy female carriers of different FOXP3 mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

CD4⁺ T cells from IPEX patients convert into functional and stable regulatory T cells by FOXP3 gene transfer

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Lentiviral hematopoietic stem cell gene therapy in patients with Wiskott-Aldrich syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Gene therapy for immunodeficiency due to adenosine deaminase deficiency.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Forkhead box P3: the peacekeeper of the immune system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

A guide to genome engineering with programmable nucleases

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Chemically modified guide RNAs enhance CRISPR-Cas genome editing in human primary cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Foxp3-dependent programme of regulatory T-cell differentiation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

Regulatory T-cell functions are subverted and converted owing to attenuated Foxp3 expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FNYAS.13011

21 January 2018

Identifiers

DOI

10.1111/NYAS.13011

1 reference

2 August 2017

1 reference