Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy (APECED)

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

2002 • 2,371 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

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

1990 • 1,041 citations

Th17 and Regulatory T Cells in Mediating and Restraining Inflammation

2010 • 978 citations

Aire regulates negative selection of organ-specific T cells

2003 • 789 citations

Hassall's corpuscles instruct dendritic cells to induce CD4+CD25+ regulatory T cells in human thymus

2005 • 743 citations

A CENTRAL ROLE FOR CENTRAL TOLERANCE

2006 • 730 citations

Nuclear Speckles

2010 • 715 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

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

2010 • 638 citations

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2006 • 561 citations

Promiscuous gene expression in thymic epithelial cells is regulated at multiple levels

2005 • 540 citations

Deletional Tolerance Mediated by Extrathymic Aire-Expressing Cells

2008 • 468 citations

Autoimmune Polyglandular Syndromes

1980 • 467 citations

Aire deficient mice develop multiple features of APECED phenotype and show altered immune response

2002 • 463 citations

Anti-Interferon Autoantibodies in Autoimmune Polyendocrinopathy Syndrome Type 1

2006 • 418 citations

21-hydroxylase, a major autoantigen in idiopathic Addison's disease

1992 • 403 citations

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

2009 • 383 citations

An autosomal locus causing autoimmune disease: autoimmune polyglandular disease type I assigned to chromosome 21

1994 • 379 citations

Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein

2000 • 358 citations

Peripheral antigen display by lymph node stroma promotes T cell tolerance to intestinal self

2006 • 346 citations

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

2009 • 337 citations

Aire's Partners in the Molecular Control of Immunological Tolerance

2010 • 314 citations

Polyglandular autoimmune syndrome type I among Iranian Jews.

1992 • 308 citations

Aire-Dependent Thymic Development of Tumor-Associated Regulatory T Cells

2013 • 303 citations

Autoimmune Regulator Is Expressed in the Cells Regulating Immune Tolerance in Thymus Medulla

1999 • 293 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

Development of Autoimmunity against Transcriptionally Unrepressed Target Antigen in the Thymus of Aire-Deficient Mice

2005 • 287 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

A common mutation in Sardinian autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy patients

1998 • 244 citations

Distinct Contributions of Aire and Antigen-Presenting-Cell Subsets to the Generation of Self-Tolerance in the Thymus

2014 • 236 citations

The autoimmune regulator PHD finger binds to non‐methylated histone H3K4 to activate gene expression

2008 • 226 citations

A Defect of Regulatory T Cells in Patients with Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

2007 • 217 citations

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

2008 • 212 citations

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

2006 • 212 citations

Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease.

1993 • 203 citations

Identification by molecular cloning of an autoantigen associated with Addison's disease as steroid 17α-hydroxylase

1992 • 201 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

A Common and Recurrent 13-bp Deletion in the Autoimmune Regulator Gene in British Kindreds with Autoimmune Polyendocrinopathy Type 1

1998 • 198 citations

Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

2008 • 197 citations

Aire employs a histone-binding module to mediate immunological tolerance, linking chromatin regulation with organ-specific autoimmunity

2008 • 167 citations

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

2008 • 164 citations

Aire unleashes stalled RNA polymerase to induce ectopic gene expression in thymic epithelial cells

2011 • 161 citations

Oral and oesophageal squamous cell carcinoma – A complication or component of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, APS-I)

2006 • 161 citations

Autoimmune Polyendocrine Syndrome Type 1: An Extensive Longitudinal Study in Sardinian Patients

2012 • 159 citations

THE SYNDROME OF FAMILIAL JUVENILE HYPOADRENOCORTICISM, HYPOPARATHYROIDISM AND SUPERFICIAL MONILIASIS

1956 • 158 citations

Gene defect behind APECED: a new clue to autoimmunity

1998 • 154 citations

AIRE Recruits P-TEFb for Transcriptional Elongation of Target Genes in Medullary Thymic Epithelial Cells

2007 • 151 citations

Extrathymic Aire-Expressing Cells Are a Distinct Bone Marrow-Derived Population that Induce Functional Inactivation of CD4+ T Cells

2013 • 141 citations

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

1999 • 136 citations

Lineage Tracing and Cell Ablation Identify a Post-Aire-Expressing Thymic Epithelial Cell Population

2013 • 130 citations

Aire-Deficient C57BL/6 Mice Mimicking the Common Human 13-Base Pair Deletion Mutation Present with Only a Mild Autoimmune Phenotype

2009 • 129 citations

Autoimmune polyendocrinopathy syndrome type 1 (APS1) and AIRE gene: New views on molecular basis of autoimmunity

2005 • 127 citations

Chromosomal clustering of genes controlled by the aire transcription factor

2005 • 126 citations

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

2007 • 126 citations

Mutation analyses of North American APS-1 patients

1999 • 125 citations

Interferon autoantibodies associated with AIRE deficiency decrease the expression of IFN-stimulated genes

2008 • 123 citations

Hepatic autoantigens in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

2001 • 120 citations

Genetic homogeneity of autoimmune polyglandular disease type I.

1996 • 117 citations

Alteration of intra-pancreatic target-organ specificity by abrogation of Aire in NOD mice

2006 • 117 citations

Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: Clinical and pathogenetic implications

2011 • 117 citations

CHRONIC TETANY AND CHRONIC MYCELIAL STOMATITIS IN A CHILD AGED FOUR AND ONE-HALF YEARS

1929 • 109 citations

Dermatological manifestations of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

2006 • 109 citations

Post-Aire Maturation of Thymic Medullary Epithelial Cells Involves Selective Expression of Keratinocyte-Specific Autoantigens

2012 • 103 citations

CHRONIC IDIOPATHIC HYPOPARATHYROIDISM WITH SUPERIMPOSED ADDISON'S DISEASE IN A CHILD

1946 • 101 citations

Identification of Tyrosine Hydroxylase as an Autoantigen in Autoimmune Polyendocrine Syndrome Type I

2000 • 101 citations

Human Peripheral Lymphoid Tissues Contain Autoimmune Regulator-Expressing Dendritic Cells

2010 • 100 citations

Subcellular Location and Expression Pattern of Autoimmune Regulator (Aire), the Mouse Orthologue for Human Gene Defective in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)

2001 • 97 citations

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

1999 • 96 citations

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome

2011 • 95 citations

AIRE's CARD Revealed, a New Structure for Central Tolerance Provokes Transcriptional Plasticity

2007 • 95 citations

Novel AIRE mutations and P450 cytochrome autoantibodies in Central and Eastern European patients with APECED

2001 • 90 citations

The solution structure of the first PHD finger of autoimmune regulator in complex with non-modified histone H3 tail reveals the antagonistic role of H3R2 methylation

2009 • 86 citations

Cytochrome P450IA2 and aromatic <scp>l</scp>‐amino acid decarboxylase are hepatic autoantigens in autoimmune polyendocrine syndrome type I

1997 • 85 citations

Radioimmunoassay for autoantibodies against interferon omega; its use in the diagnosis of autoimmune polyendocrine syndrome type I

2008 • 84 citations

Evaluation of the autoimmune regulator (AIRE) gene mutations in a cohort of Italian patients with autoimmune‐polyendocrinopathy‐candidiasis‐ectodermal‐dystrophy (APECED) and in their relatives

2008 • 83 citations

Structure and Site-Specific Recognition of Histone H3 by the PHD Finger of Human Autoimmune Regulator

2009 • 78 citations

The MouseAireGene: Comparative Genomic Sequencing, Gene Organization, and Expression

1999 • 78 citations

Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis

2010 • 77 citations

Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood

2013 • 74 citations

Activating Autoantibodies against the Calcium-Sensing Receptor Detected in Two Patients with Autoimmune Polyendocrine Syndrome Type 1

2009 • 72 citations

Alterations of the Medullary Epithelial Compartment in the Aire-Deficient Thymus: Implications for Programs of Thymic Epithelial Differentiation

2008 • 71 citations

DNA-PK contributes to the phosphorylation of AIRE: Importance in transcriptional activity

2007 • 71 citations

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) in the Irish Population

2006 • 63 citations

Gastrointestinal Manifestations in APECED Syndrome

2013 • 61 citations

High-Resolution Physical and Transcriptional Mapping of the Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy Locus on Chromosome 21q22.3 by FISH

1997 • 61 citations

Temporal Lineage Tracing of Aire-Expressing Cells Reveals a Requirement for Aire in Their Maturation Program

2014 • 60 citations

AIRE regulates T-cell-independent B-cell responses through BAFF

2008 • 57 citations

Histidine Decarboxylase, a Pyridoxal Phosphate-Dependent Enzyme, Is an Autoantigen of Gastric Enterochromaffin-Like Cells

2003 • 57 citations

PML nuclear bodies: regulation, function and therapeutic perspectives

2014 • 53 citations

Anti-cytokine autoantibodies suggest pathogenetic links with autoimmune regulator deficiency in humans and mice

2012 • 52 citations

Impaired dendritic cell maturation and cytokine production in patients with chronic mucocutanous candidiasis with or without APECED

2008 • 52 citations

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

2007 • 50 citations

Aire-Dependent Thymic Expression of Desmoglein 3, the Autoantigen in Pemphigus Vulgaris, and Its Role in T-Cell Tolerance

2010 • 49 citations

Flow Cytometry Study of Blood Cell Subtypes Reflects Autoimmune and Inflammatory Processes in Autoimmune Polyendocrine Syndrome Type I

2010 • 45 citations

Expression and Alternative Splicing of the Mouse Autoimmune Regulator Gene (Aire)

1999 • 42 citations

AIRE-PHD fingers are structural hubs to maintain the integrity of chromatin-associated interactome

2012 • 41 citations

IL-7 Dysregulation and Loss of CD8+ T Cell Homeostasis in the Monogenic Human Disease Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy

2011 • 41 citations

The Mechanism of Tissue-Restricted Antigen Gene Expression by AIRE

2013 • 38 citations

Immunophenotypic Characterisation of Peripheral Blood Lymphocytes in Autoimmune Polyglandular Syndrome Type 1: Clinical Study and Review of the Literature

2005 • 34 citations

Patient mutation in AIRE disrupts P-TEFb binding and target gene transcription

2011 • 32 citations

The monopartite nuclear localization signal of autoimmune regulator mediates its nuclear import and interaction with multiple importin α molecules

2005 • 32 citations

Which Model Better Fits the Role of Aire in the Establishment of Self-Tolerance: The Transcription Model or the Maturation Model?

2013 • 29 citations

Localization of 16 Exons to a 450-kb Region Involved in the Autoimmune Polyglandular Disease Type I (APECED) on Human Chromosome 21q22.3

1997 • 26 citations

T-Cell Large Granular Lymphocytic Leukemia and Pure Red Cell Aplasia in a Patient With Type I Autoimmune Polyendocrinopathy: Response to Immunosuppressive Therapy

1994 • 26 citations

Aire downregulates multiple molecules that have contradicting immune-enhancing and immune-suppressive functions

2004 • 24 citations

Clinical and microstructural aberrations of enamel of deciduous and permanent teeth in patients with autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

2009 • 24 citations

Autoimmune Enteropathy in a 13-Year-Old Celiac Girl Successfully Treated With Infliximab

2014 • 17 citations