Novel Pathogenic Variants of the AIRE Gene in Two Autoimmune Polyendocrine Syndrome Type I Cases with Atypical Presentation: Role of the NGS in Diagnostic Pathway and Review of the Literature

Autoimmune Polyendocrine Syndromes

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

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

(2018) Gregory M. Constantine et al.   IMMUNOLOGICAL REVIEWS

AIRE-mutations and autoimmune disease

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

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

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

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

(2016) Lucia De Martino et al.   Frontiers in Pediatrics

Central tolerance to self revealed by the autoimmune regulator

(2015) Alice Y. Chan et al.   Annals of the New York Academy of Sciences

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

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

(2015) Bergithe E. Oftedal et al.   IMMUNITY

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

(2014) Michael Waterfield et al.   NATURE IMMUNOLOGY

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

Biphasic Aire expression in early embryos and in medullary thymic epithelial cells before end-stage terminal differentiation

(2010) Yumiko Nishikawa et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Homozygosity of the Polymorphism MICA5.1 Identifies Extreme Risk of Progression to Overt Adrenal Insufficiency among 21-Hydroxylase Antibody-Positive Patients with Type 1 Diabetes

(2009) Taylor M. Triolo et al.   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

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

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) Sara Cervato et al.   CLINICAL ENDOCRINOLOGY

Autoimmune Polyendocrine Syndrome Type 1 and NALP5, a Parathyroid Autoantigen

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

Addison’s Disease, Diffuse Skin, and Mucosal Hyperpigmenation with Subtle "Flu-like" Symptoms—A Report of Two Cases

(2008) Cynthia J. Burk et al.   PEDIATRIC DERMATOLOGY