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

Journal of autoimmunity, 2012-02, Vol.38 (1), p.49-58

2012

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

Bone marrow transplantation (Basingstoke), 2014-02, Vol.49 (2), p.310-312

2014

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Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome

Clinical and experimental immunology, 2012-01, Vol.167 (1), p.120-128

2012

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A new case of IPEX receiving bone marrow transplantation

Bone marrow transplantation (Basingstoke), 2005-05, Vol.35 (10), p.1033-1034

2005

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Extensive dental caries and periodontal disease in a child with GATA2 deficiency

Journal of clinical and experimental dentistry, 2023, Vol.15 (9), p.e787-e790

2023

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Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

Gastroenterology (New York, N.Y. 1943), 2007-05, Vol.132 (5), p.1705-1717

2007

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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

Current opinion in rheumatology, 2003-07, Vol.15 (4), p.430-435

2003

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Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature

Journal of biological regulators and homeostatic agents, 2013-10, Vol.27 (4), p.935-946

2013

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Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome

Journal of allergy and clinical immunology, 2009-02, Vol.123 (2), p.S148-S148

2009

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IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity

Immunologic research, 2007-07, Vol.38 (1-3), p.112-121

2007

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Patient‐centred screening for primary immunodeficiency, a multi‐stage diagnostic protocol designed for non‐immunologists: 2011 update

Clinical and experimental immunology, 2012-01, Vol.167 (1), p.108-119

de Vries, E.

2012

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Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome

Journal of allergy and clinical immunology, 2022-10, Vol.151, p.1081-1095

2022

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Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy

Clinical and experimental rheumatology, 2010-01, Vol.28 (1 Suppl 57), p.93

2010

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FOXP3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: relationship with IL-17 at cytokine and molecular level

Pediatric rheumatology online journal, 2008-09, Vol.6 (S1), p.P13-P13, Article P13

2008

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Immunodeficiencies with Autoimmune Consequences

Advances in Immunology, 2006, Vol.89, p.321-370

2006

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The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans

Clinical immunology (Orlando, Fla.), 2009-01, Vol.131, p.S7-S7

2009

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Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)

Vaccine, 2005-02, Vol.23 (14), p.1668-1671

2005

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New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome

Clinical immunology (Orlando, Fla.), 2008-01, Vol.127, p.S157-S157

2008

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A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype

Clinical immunology (Orlando, Fla.), 2008-01, Vol.127, p.S69-S69

2008

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Expression of FOXP3+CD4+CD25+ Regulatory T Cells in Patients with Inflammatory Bowel Disease

Clinical immunology (Orlando, Fla.), 2008-01, Vol.127, p.S122-S122

2008

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Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis

Journal of allergy and clinical immunology, 2003-11, Vol.112 (5), p.958-964

2003

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Lack of transmission of TT virus through immunoglobulins

Transfusion (Philadelphia, Pa.), 2001-12, Vol.41 (12), p.1505-1508

2001

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The polycystic ovary syndrome: a position statement from the European Society of Endocrinology

European journal of endocrinology, 2014-10, Vol.171 (4), p.P1

2014

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

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

Proteomics plus genomics approaches in primary immunodeficiency: the case of immune dysregulation, polyendocrinopathy, enteropathy, X‐linked (IPEX) syndrome

A new case of IPEX receiving bone marrow transplantation

The evolution of cellular deficiency in GATA2 mutation

Extensive dental caries and periodontal disease in a child with GATA2 deficiency

Severe Food Allergy as a Variant of IPEX Syndrome Caused by a Deletion in a Noncoding Region of the FOXP3 Gene

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

Anti-infective prophylaxis for primary immunodeficiencies: what is done in Italian Primary Immunodeficiency Network centers (IPINet) and review of the literature

Clinical, Laboratory, And Molecular Evaluation Of 105 Patients With A Phenotype Of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome

IPEX, FOXP3 and regulatory T-cells: a model for autoimmunity

Patient‐centred screening for primary immunodeficiency, a multi‐stage diagnostic protocol designed for non‐immunologists: 2011 update

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome

Transplantation in patients with SCID: mismatched related stem cells or unrelated cord blood?

Defective FOXP3 expression in patients with acute Kawasaki disease and restoration by intravenous immunoglobulin therapy

FOXP3 expression in peripheral blood and synovial cells of patients with juvenile idiopathic arthritis: relationship with IL-17 at cytokine and molecular level

Immunodeficiencies with Autoimmune Consequences

The Naturally Occurring Splice Variant of FOXP3 Lacking Exon 2 is not Sufficient to Maintain Immune Homeostasis and Prevent IPEX in vivo in Humans

Safety and immunogenicity of measles–mumps–rubella vaccine in children with congenital immunodeficiency (DiGeorge syndrome)

New Insights on Camptodactyly Arthropathy Coxa Vara Pericarditis (CACP) Syndrome

A Silent FOXP3 Mutation Possibly Responsible of Atypical IPEX (Immune- Dysregulation, Polyendocrinopathy, Enteropathy, X-linked) Phenotype

Expression of FOXP3+CD4+CD25+ Regulatory T Cells in Patients with Inflammatory Bowel Disease

Inducible CO-stimulator molecule, a candidate gene for defective isotype switching, is normal in patients with hyper-IgM syndrome of unknown molecular diagnosis

Lack of transmission of TT virus through immunoglobulins

The polycystic ovary syndrome: a position statement from the European Society of Endocrinology

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