Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis

Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls

2007 • 9,332 citations

Control of Regulatory T Cell Development by the Transcription Factor Foxp3

2003 • 7,902 citations

Foxp3 programs the development and function of CD4+CD25+ regulatory T cells

2003 • 7,470 citations

Regulatory T Cells and Immune Tolerance

2008 • 4,778 citations

The Role of Tumoral FOXP3 on Cell Proliferation, Migration, and Invasion in Gastric Cancer

2017 • 4,003 citations

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

2001 • 3,260 citations

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

2003 • 2,825 citations

The Wellcome Trust Case Control Consortium, U.K.

2008 • 2,762 citations

Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse

2001 • 2,503 citations

Projection of an Immunological Self Shadow Within the Thymus by the Aire Protein

2002 • 2,371 citations

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

2001 • 1,831 citations

A function for interleukin 2 in Foxp3-expressing regulatory T cells

2005 • 1,744 citations

Genetic Mapping in Human Disease

2008 • 1,438 citations

Positional cloning of the APECED gene

1997 • 1,385 citations

An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains

1997 • 1,155 citations

Promiscuous gene expression in medullary thymic epithelial cells mirrors the peripheral self

2001 • 1,043 citations

Clinical Variation of Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED) in a Series of 68 Patients

1990 • 1,041 citations

Rare Variants of IFIH1 , a Gene Implicated in Antiviral Responses, Protect Against Type 1 Diabetes

2009 • 952 citations

The insulin gene is transcribed in the human thymus and transcription levels correlate with allelic variation at the INS VNTR-IDDM2 susceptibility locus for type 1 diabetes

1997 • 931 citations

Defective Suppressor Function in CD4+CD25+ T-Cells From Patients With Type 1 Diabetes

2005 • 825 citations

Insulin expression in human thymus is modulated by INS VNTR alleles at the IDDM2 locus

1997 • 806 citations

Aire regulates negative selection of organ-specific T cells

2003 • 789 citations

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

2002 • 703 citations

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

2010 • 691 citations

Autoimmune Polyendocrine Syndromes

2004 • 650 citations

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

2010 • 638 citations

The Cellular Mechanism of Aire Control of T Cell Tolerance

2005 • 622 citations

NALP1in Vitiligo-Associated Multiple Autoimmune Disease

2007 • 602 citations

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2006 • 561 citations

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

2006 • 508 citations

Development and function of agonist-induced CD25+Foxp3+ regulatory T cells in the absence of interleukin 2 signaling

2005 • 473 citations

Deletional Tolerance Mediated by Extrathymic Aire-Expressing Cells

2008 • 468 citations

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

1982 • 436 citations

Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

2006 • 418 citations

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked–like syndrome, and defective IL-10 expression from CD4 lymphocytes

2006 • 408 citations

Functional Defects and the Influence of Age on the Frequency of CD4+CD25+ T-Cells in Type 1 Diabetes

2005 • 384 citations

Clinical, Immunological, and Genetic Features of Autoimmune Primary Adrenal Insufficiency: Observations from a Norwegian Registry

2009 • 383 citations

Proliferative arrest and rapid turnover of thymic epithelial cells expressing Aire

2007 • 367 citations

Defective Suppressor Function of Human CD4+ CD25+ Regulatory T Cells in Autoimmune Polyglandular Syndrome Type II

2004 • 359 citations

Localization of a Type 1 Diabetes Locus in the IL2RA/CD25 Region by Use of Tag Single-Nucleotide Polymorphisms

2005 • 350 citations

Type 1 Diabetes-Associated Autoimmunity: Natural History, Genetic Associations, and Screening

2006 • 345 citations

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

2009 • 337 citations

The Effector T Cells of Diabetic Subjects Are Resistant to Regulation via CD4+FOXP3+ Regulatory T Cells

2008 • 294 citations

Gene Dosage–limiting Role ofAirein Thymic Expression, Clonal Deletion, and Organ-specific Autoimmunity

2004 • 291 citations

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

2008 • 288 citations

Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

2009 • 273 citations

Spontaneous autoimmunity prevented by thymic expression of a single self-antigen

2006 • 271 citations

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells

2007 • 270 citations

Defects in IL-2R Signaling Contribute to Diminished Maintenance of FOXP3 Expression in CD4+CD25+ Regulatory T-Cells of Type 1 Diabetic Subjects

2009 • 267 citations

Normal Thymic Architecture and Negative Selection Are Associated with Aire Expression, the Gene Defective in the Autoimmune-Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED)

2000 • 261 citations

Insulin Expression Levels in the Thymus Modulate Insulin-Specific Autoreactive T-Cell Tolerance

2002 • 260 citations

Polyglandular autoimmune syndromes

2009 • 246 citations

IL2RA Genetic Heterogeneity in Multiple Sclerosis and Type 1 Diabetes Susceptibility and Soluble Interleukin-2 Receptor Production

2009 • 237 citations

Regulatory T‐cell physiology and application to treat autoimmunity

2006 • 236 citations

Prevalence and Clinical Associations of 10 Defined Autoantibodies in Autoimmune Polyendocrine Syndrome Type I

2004 • 234 citations

High prevalence and increasing incidence of Addison's disease in western Norway

2002 • 212 citations

Autoimmune Polyendocrine Syndrome Type 1 in Norway: Phenotypic Variation, Autoantibodies, and Novel Mutations in the Autoimmune Regulator Gene

2006 • 212 citations

Aire controls the differentiation program of thymic epithelial cells in the medulla for the establishment of self-tolerance

2008 • 212 citations

CD4+CD25high regulatory T cells in human autoimmune diabetes

2005 • 202 citations

A Novel Mutation of the Autoimmune Regulator Gene in an Italian Kindred with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy, Acting in a Dominant Fashion and Strongly Cosegregating with Hypothyroid Autoimmune Thyroiditis

2001 • 199 citations

AIRE Mutations and Human Leukocyte Antigen Genotypes as Determinants of the Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Phenotype

2002 • 195 citations

A coding polymorphism in NALP1 confers risk for autoimmune Addison's disease and type 1 diabetes

2008 • 187 citations

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

2007 • 181 citations

Association of the TSHR gene with Graves' disease: the first disease specific locus

2005 • 176 citations

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

2006 • 168 citations

Mechanisms of an autoimmunity syndrome in mice caused by a dominant mutation in Aire

2008 • 164 citations

DRB1104 and DQ Alleles: Expression of 21-Hydroxylase Autoantibodies and Risk of Progression to Addison’s Disease1

1999 • 145 citations

Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in an Adolescent Girl with a NovelAIREMutation: Response to Immunosuppressive Therapy¹

1999 • 136 citations

Aire-Dependent Alterations in Medullary Thymic Epithelium Indicate a Role for Aire in Thymic Epithelial Differentiation

2007 • 126 citations

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

2008 • 111 citations

Primary Immune Deficiency Disorders Presenting as Autoimmune Diseases: IPEX and APECED

2008 • 109 citations

Mutational Analysis of the FOXP3 Gene and Evidence for Genetic Heterogeneity in the Immunodysregulation, Polyendocrinopathy, Enteropathy Syndrome

2003 • 107 citations

Severe Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy in an Adolescent Girl with a Novel AIRE Mutation: Response to Immunosuppressive Therapy

1999 • 96 citations

The Association ofCTLA4Polymorphism with Type 1 Diabetes Is Concentrated in Patients Complicated with Autoimmune Thyroid Disease: A Multicenter Collaborative Study in Japan

2006 • 92 citations

Insulin gene VNTR genotype associates with frequency and phenotype of the autoimmune response to proinsulin

2010 • 85 citations

β-Cell Autoantibodies, Human Leukocyte Antigen II Alleles, and Type 1 Diabetes in Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy*

2000 • 83 citations

A type 1 diabetes subgroup with a female bias is characterised by failure in tolerance to thyroid peroxidase at an early age and a strong association with the cytotoxic T-lymphocyte-associated antigen-4 gene

2007 • 71 citations

Mechanistic Associations of a Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome

2006 • 62 citations

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy Syndrome with Renal Failure: Impact of Posttransplant Immunosuppression on Disease Activity

2006 • 58 citations

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

2008 • 53 citations

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

2009 • 50 citations

A robust immunoassay for anti-interferon autoantibodies that is highly specific for patients with autoimmune polyglandular syndrome type 1

2007 • 50 citations

T Cell Responses to Steroid Cytochrome P450 21-Hydroxylase in Patients with Autoimmune Primary Adrenal Insufficiency

2009 • 49 citations

Update in Endocrine Autoimmunity

2008 • 39 citations

AIRE variations in Addison's disease and autoimmune polyendocrine syndromes (APS): partial gene deletions contribute to APS I

2008 • 39 citations

Autoimmune endocrine disease

2002 • 37 citations

Severe FOXP3+ and Naïve T Lymphopenia in a Non-IPEX Form of Autoimmune Enteropathy Combined With an Immunodeficiency

2007 • 31 citations

Impaired Caspase-3 Expression by Peripheral T Cells in Chronic Autoimmune Thyroiditis and in Autoimmune Polyendocrine Syndrome-2

2006 • 26 citations

The role of the IDDM2 locus in the susceptibility of UK APS1 subjects to type 1 diabetes mellitus

2007 • 13 citations