Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Host Control of Fungal Infections: Lessons from Basic Studies and Human Cohorts

(2018) Michail S. Lionakis et al.   Annual Review of Immunology

APECED in Turkey: A case report and insights on genetic and phenotypic variability

(2018) Alessandra Fierabracci et al.   CLINICAL IMMUNOLOGY

A Fungal Immunotherapeutic Vaccine (NDV-3A) for Treatment of Recurrent Vulvovaginal Candidiasis—A Phase 2 Randomized, Double-Blind, Placebo-Controlled Trial

(2018) John E Edwards et al.   CLINICAL INFECTIOUS DISEASES

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function

(2018) Elizabeth P. Sampaio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

VT-1598 inhibits the in vitro growth of mucosal Candida strains and protects against fluconazole-susceptible and -resistant oral candidiasis in IL-17 signalling-deficient mice

(2018) Timothy J Break et al.   JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

Paradoxical development of polymyositis-like autoimmunity through augmented expression of autoimmune regulator (AIRE)

(2018) Hitoshi Nishijima et al.   JOURNAL OF AUTOIMMUNITY

Dominant-negative loss of function arises from a second, more frequent variant within the SAND domain of autoimmune regulator ( AIRE )

(2018) Jordan K. Abbott et al.   JOURNAL OF AUTOIMMUNITY

Autoimmune Polyendocrine Syndromes

(2018) Eystein S. Husebye et al.   NEW ENGLAND JOURNAL OF MEDICINE

Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison’s disease in Sweden

(2018) Daniel Eriksson et al.   Scientific Reports

The Role of AIRE in the Immunity Against Candida Albicans in a Model of Human Macrophages

(2018) Jose Antonio Tavares de Albuquerque et al.   Frontiers in Immunology

Invasive candidiasis

(2018) Peter G. Pappas et al.   Nature Reviews Disease Primers

Thymic tuft cells promote an IL-4-enriched medulla and shape thymocyte development

(2018) Corey N. Miller et al.   NATURE

Understanding the role of host immune responses in invasive candidiasis

(2017) Jigar V. Desai et al.   INTENSIVE CARE MEDICINE

VT-1161 protects mice against oropharyngeal candidiasis caused by fluconazole-susceptible and -resistant Candida albicans

(2017) Timothy J Break et al.   JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

Exome Sequencing Reveals Mutations in AIRE as a Cause of Isolated Hypoparathyroidism

(2017) Dong Li et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

(2017) Elizaveta M Orlova et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes

(2017) Ofer Zimmerman et al.   Frontiers in Immunology

Autoimmune polyendocrine syndrome type 1 in an Indian cohort: a longitudinal study

(2017) Ghazala Zaidi et al.   Endocrine Connections

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies

(2016) Steffen Meyer et al.   CELL

Identification of autoimmune polyendocrine syndrome type 1 in patients with isolated hypoparathyroidism

(2016) Saroj K. Sahoo et al.   CLINICAL ENDOCRINOLOGY

AIRE-mutations and autoimmune disease

(2016) Øyvind Bruserud et al.   CURRENT OPINION IN IMMUNOLOGY

Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance

(2016) Noriyuki Fujikado et al.   IMMUNITY

Aire Enforces Immune Tolerance by Directing Autoreactive T Cells into the Regulatory T Cell Lineage

(2016) Sven Malchow et al.   IMMUNITY

Autoimmune regulator and self-tolerance - molecular and clinical aspects

(2016) Jakub Abramson et al.   IMMUNOLOGICAL REVIEWS

FBXO3 Protein Promotes Ubiquitylation and Transcriptional Activity of AIRE (Autoimmune Regulator)

(2016) Wei Shao et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

(2016) Øyvind Bruserud et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

LYN- and AIRE-mediated tolerance checkpoint defects synergize to trigger organ-specific autoimmunity

(2016) Irina Proekt et al.   JOURNAL OF CLINICAL INVESTIGATION

Transcriptional programs that control expression of the autoimmune regulator gene Aire

(2016) Yonatan Herzig et al.   NATURE IMMUNOLOGY

Proteome-wide survey of the autoimmune target repertoire in autoimmune polyendocrine syndrome type 1

(2016) Nils Landegren et al.   Scientific Reports

Fezf2 Orchestrates a Thymic Program of Self-Antigen Expression for Immune Tolerance

(2015) Hiroyuki Takaba et al.   CELL

A highly conserved NF-κB-responsive enhancer is critical for thymic expression of Aire in mice

(2015) Uku Haljasorg et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Thymic B Cells Are Licensed to Present Self Antigens for Central T Cell Tolerance Induction

(2015) Tomoyoshi Yamano et al.   IMMUNITY

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

(2015) Bergithe E. Oftedal et al.   IMMUNITY

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

(2015) Kai Kisand et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

(2015) Jolan E. Walter et al.   JOURNAL OF CLINICAL INVESTIGATION

Identification of a novel cis-regulatory element essential for immune tolerance

(2015) Taylor N. LaFlam et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Aire controls gene expression in the thymic epithelium with ordered stochasticity

(2015) Matthew Meredith et al.   NATURE IMMUNOLOGY

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

Transglutaminase 4 as a prostate autoantigen in male subfertility

(2015) Nils Landegren et al.   Science Translational Medicine

Intronic regulation of Aire expression by Jmjd6 for self-tolerance induction in the thymus

(2015) Toyoshi Yanagihara et al.   Nature Communications

Homeodomain-Interacting Protein Kinase 2, a Novel Autoimmune Regulator Interaction Partner, Modulates Promiscuous Gene Expression in Medullary Thymic Epithelial Cells

(2015) Kristin Rattay et al.   JOURNAL OF IMMUNOLOGY

Canonical microRNAs in thymic epithelial cells promote central tolerance

(2014) Imran S. Khan et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy: Report of Seven Additional Sicilian Patients and Overview of the Overall Series from Sicily

(2014) Mariella Valenzise et al.   Hormone Research in Paediatrics

Shaping the repertoire of tumor-infiltrating effector and regulatory T cells

(2014) Peter A. Savage et al.   IMMUNOLOGICAL REVIEWS

Enhancement of an anti-tumor immune response by transient blockade of central T cell tolerance

(2014) Imran S. Khan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Effector Mechanisms of the Autoimmune Syndrome in the Murine Model of Autoimmune Polyglandular Syndrome Type 1

(2014) J. J. DeVoss 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

The transcriptional regulator Aire coopts the repressive ATF7ip-MBD1 complex for the induction of immunotolerance

(2014) Michael Waterfield et al.   NATURE IMMUNOLOGY

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

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

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

(2013) James M. Gardner et al.   IMMUNITY

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

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

(2013) S. Malchow et al.   SCIENCE

BPIFB1 Is a Lung-Specific Autoantigen Associated with Interstitial Lung Disease

(2013) A. K. Shum et al.   Science Translational Medicine

NDV-3 protects mice from vulvovaginal candidiasis through T- and B-cell immune response

(2013) Ashraf S. Ibrahim et al.   VACCINE

Efficacy and safety of recombinant human parathyroid hormone (1–84) in hypoparathyroidism (REPLACE): a double-blind, placebo-controlled, randomised, phase 3 study

(2013) Michael Mannstadt et al.   Lancet Diabetes & Endocrinology

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

Autoimmunity and cystatin SA1 deficiency behind chronic mucocutaneous candidiasis in autoimmune polyendocrine syndrome type 1

(2012) Emma Lindh et al.   JOURNAL OF AUTOIMMUNITY

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

Control of central and peripheral tolerance by Aire

(2011) Todd C. Metzger et al.   IMMUNOLOGICAL REVIEWS

Autoimmune regulator (AIRE) contributes to Dectin-1–induced TNF-α production and complexes with caspase recruitment domain–containing protein 9 (CARD9), spleen tyrosine kinase (Syk), and Dectin-1

(2011) Luis A. Pedroza et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human Peripheral Lymphoid Tissues Contain Autoimmune Regulator-Expressing Dendritic Cells

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

Aire's Partners in the Molecular Control of Immunological Tolerance

(2010) Jakub Abramson et al.   CELL

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

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

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

Acquired Autoimmune Polyglandular Syndrome, Thymoma, and an AIRE Defect

(2010) Mickie H. Cheng et al.   NEW ENGLAND JOURNAL OF MEDICINE

Global relevance of Aire binding to hypomethylated lysine-4 of histone-3

(2010) A. S. Koh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Aire

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

Polyglandular autoimmune syndromes

(2009) George J Kahaly   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

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

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

Increased death risk and altered cancer incidence pattern in patients with isolated or combined autoimmune primary adrenocortical insufficiency

(2008) Sophie Bensing et al.   CLINICAL ENDOCRINOLOGY

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

(2008) Tõnis Org et al.   EMBO REPORTS

Autoimmune polyendocrine syndrome type I in Slovakia: relevance of screening patients with autoimmune Addison's disease

(2008) Ng'weina F. Magitta et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Asplenia and functional hyposplenism in autoimmune polyglandular syndrome type 1

(2008) Uri Pollak et al.   EUROPEAN JOURNAL OF PEDIATRICS

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

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

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

B cells are required for Aire-deficient mice to develop multi-organ autoinflammation: A therapeutic approach for APECED patients

(2008) I. Gavanescu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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