4.7 Review

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

Related references

Note: Only part of the references are listed.
Review Medicine, General & Internal

Autoimmune Polyendocrine Syndromes

Eystein S. Husebye et al.

NEW ENGLAND JOURNAL OF MEDICINE (2018)

Review Immunology

Insights into immune tolerance from AIRE deficiency

Irina Proekt et al.

CURRENT OPINION IN IMMUNOLOGY (2017)

Review Immunology

AIRE-mutations and autoimmune disease

Oyvind Bruserud et al.

CURRENT OPINION IN IMMUNOLOGY (2016)

Article Endocrinology & Metabolism

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

Oyvind Bruserud et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2016)

Review Pediatrics

Novel Findings into AIRE Genetics and Functioning: Clinical Implications

Lucia De Martino et al.

FRONTIERS IN PEDIATRICS (2016)

Review Immunology

AIRE expands: new roles in immune tolerance and beyond

Mark S. Anderson et al.

NATURE REVIEWS IMMUNOLOGY (2016)

Article Immunology

Central tolerance to self revealed by the autoimmune regulator

Alice Y. Chan et al.

YEAR IN IMMUNOLOGY (2015)

Article Medicine, General & Internal

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

E. S. Husebye et al.

JOURNAL OF INTERNAL MEDICINE (2009)

Article Medicine, General & Internal

Autoimmune polyendocrine syndrome type 1 and NALP5, parathyroid autoantigen

Mohammad Alimohammadi et al.

NEW ENGLAND JOURNAL OF MEDICINE (2008)

Review Immunology

Transcriptional regulation by AIRE: molecular mechanisms of central tolerance

Paert Peterson et al.

NATURE REVIEWS IMMUNOLOGY (2008)

Article Endocrinology & Metabolism

Autoimmune polyendocrine syndrome type 1 in Norway: Phenotypic variation, autoantibodies, and novel mutations in the autoimmune regulator gene

Anette S. B. Wolff et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2007)

Article Endocrinology & Metabolism

Extensive clinical experience - Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Jaakko Perheentupa

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2006)

Article Medicine, General & Internal

Anti-interferon autoantibodies in autoimmune polyendocrinopathy syndrome type 1

Anthony Meager et al.

PLOS MEDICINE (2006)

Article Multidisciplinary Sciences

Projection of an immunological self shadow within the thymus by the aire protein

MS Anderson et al.

SCIENCE (2002)

Article Biochemistry & Molecular Biology

The autoimmune regulator (AIRE) is a DNA-binding protein

PG Kumar et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2001)