Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

Gastrointestinal Autoimmunity Associated With Loss of Central Tolerance to Enteric α-Defensins

(2015) Jan Dobeš et al.   GASTROENTEROLOGY

The deacetylase Sirt1 is an essential regulator of Aire-mediated induction of central immunological tolerance

(2015) Anna Chuprin et al.   NATURE IMMUNOLOGY

Regulatory T cells generated early in life play a distinct role in maintaining self-tolerance

(2015) S. Yang et al.   SCIENCE

In vivoanalysis of helper T cell responses in patients with autoimmune polyendocrinopathy – candidiasis – ectodermal dystrophy provides evidence in support of an IL-22 defect

(2014) Sini M. Laakso et al.   AUTOIMMUNITY

Cutaneous vasculitis in patients with autoimmune polyendocrine syndrome type 1: report of a case and brief review of the literature

(2014) Nicola Improda et al.   BMC Pediatrics

A novel cell-based assay for measuring neutralizing autoantibodies against type I interferons in patients with autoimmune polyendocrine syndrome type 1

(2014) Lars Breivik et al.   CLINICAL IMMUNOLOGY

Autoantibodies to IL-17A may be Correlated with the Severity of Mucocutaneous Candidiasis in APECED Patients

(2014) Adrien Katalin Sarkadi et al.   JOURNAL OF CLINICAL IMMUNOLOGY

High Frequency of Cytolytic 21-Hydroxylase–Specific CD8+T Cells in Autoimmune Addison’s Disease Patients

(2014) Amina Dawoodji et al.   JOURNAL OF IMMUNOLOGY

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

(2014) Y. Nishikawa et al.   JOURNAL OF IMMUNOLOGY

Clinical and Serologic Parallels to APS-I in Patients with Thymomas and Autoantigen Transcripts in Their Tumors

(2014) Anette S. B. Wolff et al.   JOURNAL OF IMMUNOLOGY

Kidney involvement in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy in a Finnish cohort

(2014) N. Kluger et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

An RNAi screen for Aire cofactors reveals a role for Hnrnpl in polymerase release and Aire-activated ectopic transcription

(2014) M. Giraud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Lymphopenia-Induced Proliferation in Aire-Deficient Mice Helps to Explain Their Autoimmunity and Differences from Human Patients

(2014) Kai Kisand et al.   Frontiers in Immunology

Tryptophan Hydroxylase Autoantibodies as Markers of a Distinct Autoimmune Gastrointestinal Component of Autoimmune Polyendocrine Syndrome Type 1

(2013) R. Scarpa et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Prevalence and Clinical Associations of Calcium-Sensing Receptor and NALP5 Autoantibodies in Finnish APECED Patients

(2013) E. Helen Kemp et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Gastrointestinal Manifestations in APECED Syndrome

(2013) Nicolas Kluger et al.   JOURNAL OF CLINICAL GASTROENTEROLOGY

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

(2013) A. S. B. Wolff et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

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

(2013) S. Malchow et al.   SCIENCE

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

(2013) Mitsuru Matsumoto et al.   Frontiers in Immunology

Human APECED; a Sick Thymus Syndrome?

(2013) T. Petteri Arstila et al.   Frontiers in Immunology

The Many Faces of Aire in Central Tolerance

(2013) Martti Laan et al.   Frontiers in Immunology

Absence of some common organ-specific and non-organ-specific autoimmunity in autoimmune polyendocrinopathy candidiasis ectodermal dystrophy

(2013) N. Kluger et al.   Endocrine Connections

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

(2012) Kai Kisand et al.   Annals of the New York Academy of Sciences

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

(2012) J. Kärner et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Autoantibodies against aromatic amino acid hydroxylases in patients with autoimmune polyendocrine syndrome type 1 target multiple antigenic determinants and reveal regulatory regions crucial for enzymatic activity

(2012) Eirik Bratland et al.   IMMUNOBIOLOGY

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

(2012) Antonella Meloni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Defective Autoimmune Regulator-Dependent Central Tolerance to Myelin Protein Zero Is Linked to Autoimmune Peripheral Neuropathy

(2012) M. A. Su et al.   JOURNAL OF IMMUNOLOGY

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

(2012) Massimiliano Gaetani et al.   NUCLEIC ACIDS RESEARCH

Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome

(2011) Cinzia Mazza et al.   CLINICAL IMMUNOLOGY

IL-22 and TNF-α represent a key cytokine combination for epidermal integrity during infection withCandida albicans

(2011) Stefanie Eyerich et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

(2011) Kai Kisand et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Classification and functions of enteroendocrine cells of the lower gastrointestinal tract

(2011) Ashok R. Gunawardene et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

Loss of Enteroendocrine Cells in Autoimmune-Polyendocrine-Candidiasis-Ectodermal-Dystrophy (APECED) Syndrome with Gastrointestinal Dysfunction

(2011) C. Posovszky et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2011) S. M. Laakso et al.   JOURNAL OF IMMUNOLOGY

Post-splenectomy and hyposplenic states

(2011) Antonio Di Sabatino et al.   LANCET

New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome

(2011) H R Conti et al.   Mucosal Immunology

Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22

(2011) Gregory F Sonnenberg et al.   NATURE IMMUNOLOGY

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

(2011) Kristina Žumer et al.   NUCLEIC ACIDS RESEARCH

Autoimmune polyendocrine syndrome type 1: Utility of KCNRG autoantibodies as a marker of active pulmonary disease and successful treatment with rituximab

(2011) Jonathan Popler et al.   PEDIATRIC PULMONOLOGY

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

(2011) M. Giraud et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Measuring Autoantibodies against IL-17F and IL-22 in Autoimmune Polyendocrine Syndrome Type I by Radioligand Binding Assay Using Fusion Proteins

(2011) B. E. V. Oftedal et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Human Peripheral Lymphoid Tissues Contain Autoimmune Regulator-Expressing Dendritic Cells

(2010) Pietro Luigi Poliani et al.   AMERICAN JOURNAL OF PATHOLOGY

Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia

(2010) P. D. Burbelo et al.   BLOOD

Aire's Partners in the Molecular Control of Immunological Tolerance

(2010) Jakub Abramson et al.   CELL

Renal Failure Associated with APECED and Terminal 4q Deletion: Evidence of Autoimmune Nephropathy

(2010) Mohammed Al-Owain et al.   Clinical & Developmental Immunology

AIRE gene mutations and autoantibodies to interferon omega in patients with chronic hypoparathyroidism without APECED

(2010) Sara Cervato et al.   CLINICAL ENDOCRINOLOGY

Aire and T cell development

(2010) Mark S Anderson et al.   CURRENT OPINION IN IMMUNOLOGY

Increased IL-17A secretion in response to Candida albicans in autoimmune polyendocrine syndrome type 1 and its animal model

(2010) Kerstin M. Ahlgren et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Contrasting models for the roles of Aire in the differentiation program of epithelial cells in the thymic medulla

(2010) Mitsuru Matsumoto   EUROPEAN JOURNAL OF IMMUNOLOGY

Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations

(2010) Elizaveta M. Orlova et al.   Hormone Research in Paediatrics

Autoimmune Polyendocrine Syndrome Type 1 in North-Western France: AIRE Gene Mutation Specificities and Severe Forms Needing Immunosuppressive Therapies

(2010) E. Proust-Lemoine et al.   Hormone Research in Paediatrics

Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis

(2010) Eystein S. Husebye et al.   IMMUNITY

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

(2010) Wan-Fai Ng et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Regulatory T cell defect in APECED patients is associated with loss of naive FOXP3+ precursors and impaired activated population

(2010) Sini M. Laakso et al.   JOURNAL OF AUTOIMMUNITY

21-Hydroxylase epitopes are targeted by CD8 T cells in autoimmune Addison’s disease

(2010) Diane Rottembourg et al.   JOURNAL OF AUTOIMMUNITY

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

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Cellular immunity and immunopathology in autoimmune Addison's disease

(2010) Eirik Bratland et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

T-cell regulation by casitas B-lineage lymphoma (Cblb) is a critical failsafe against autoimmune disease due to autoimmune regulator (Aire) deficiency

(2010) C. E. Teh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2010) A. S. B. Wolff et al.   SCANDINAVIAN JOURNAL OF IMMUNOLOGY

Aire

(2009) Diane Mathis et al.   Annual Review of Immunology

Novel sequence variation ofAIREand detection of interferon-ω antibodies in early infancy

(2009) Beáta Tóth et al.   CLINICAL ENDOCRINOLOGY

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

(2009) Shen-Ying Zhang et al.   IMMUNOLOGICAL REVIEWS

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

(2009) Eirik Bratland et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Editorial: Functional Autoantibodies Cause Hypoparathyroidism

(2009) Eystein S. Husebye   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2009) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

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) Francesca Chignola et al.   NUCLEIC ACIDS RESEARCH

Pulmonary autoimmunity as a feature of autoimmune polyendocrine syndrome type 1 and identification of KCNRG as a bronchial autoantigen

(2009) M. Alimohammadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2008) K. Kisand et al.   BLOOD

Hypothetical review: thymic aberrations and type-I interferons; attempts to deduce autoimmunizing mechanisms from unexpected clues in monogenic and paraneoplastic syndromes

(2008) A. Meager et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

(2008) Bergithe E. Oftedal et al.   CLINICAL IMMUNOLOGY

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

(2008) Tõnis Org et al.   EMBO REPORTS

Detection of a complete autoimmune regulator gene deletion and two additional novel mutations in a cohort of patients with atypical phenotypic variants of autoimmune polyglandular syndrome type 1

(2008) Katarina Trebušak Podkrajšek et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

(2008) A S Bøe Wolff et al.   GENES AND IMMUNITY

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

(2008) Antonella Meloni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

(2008) Maureen A. Su et al.   JOURNAL OF CLINICAL INVESTIGATION

Patients with Chronic Mucocutaneous Candidiasis Exhibit Reduced Production of Th17-Associated Cytokines IL-17 and IL-22

(2008) Kilian Eyerich et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

(2008) Mohammad Alimohammadi et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2008) A. S. Koh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Deletional Tolerance Mediated by Extrathymic Aire-Expressing Cells

(2008) J. M. Gardner et al.   SCIENCE

Do NALP5 antibodies correlate with hypoparathyroidism in patients with APS-1?

(2008) George S Eisenbarth   Nature clinical practice. Endocrinology & metabolism