Aire

D Mathis, C Benoist - Annual review of immunology, 2009 - annualreviews.org
Mutations in the transcriptional regulator, Aire, cause APECED, a polyglandular autoimmune
disease with monogenic transmission. Animal models of APECED have revealed that Aire …

Prediction and pathogenesis in type 1 diabetes

AG Ziegler, GT Nepom - Immunity, 2010 - cell.com
A combination of genetic and immunological features is useful for prediction of autoimmune
diabetes. Patterns of immune response correspond to the progression from a preclinical …

Dominant mutations in the autoimmune regulator AIRE are associated with common organ-specific autoimmune diseases

BE Oftedal, A Hellesen, MM Erichsen, E Bratland… - Immunity, 2015 - cell.com
The autoimmune regulator (AIRE) gene is crucial for establishing central immunological
tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal …

Thymus and autoimmunity

A Marx, Y Yamada, K Simon-Keller, B Schalke… - Seminars in …, 2021 - Springer
The thymus prevents autoimmune diseases through mechanisms that operate in the cortex
and medulla, comprising positive and negative selection and the generation of regulatory T …

Molecular mechanisms in autoimmune type 1 diabetes: a critical review

Z Xie, C Chang, Z Zhou - Clinical reviews in allergy & immunology, 2014 - Springer
Autoimmune type 1 diabetes is characterized by selective destruction of insulin-secreting
beta cells in the pancreas of genetically susceptible individuals. The mechanisms …

Monogenic autoimmunity

MH Cheng, MS Anderson - Annual review of immunology, 2012 - annualreviews.org
Monogenic autoimmune syndromes provide a rare yet powerful glimpse into the
fundamental mechanisms of immunologic tolerance. Such syndromes reveal not only the …

Recent insights into the role and molecular mechanisms of the autoimmune regulator (AIRE) gene in autoimmunity

A Fierabracci - Autoimmunity reviews, 2011 - Elsevier
Since many years immunologists have being tried to answer the tantalizing enigma of
immunological tolerance. Complex mechanisms in both thymus (central tolerance) and …

Type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED): a “rare” manifestation in a “rare” disease

A Fierabracci - International Journal of Molecular Sciences, 2016 - mdpi.com
Type 1 autoimmune polyglandular syndrome (APS1) is a rare autosomal recessive disease,
caused by mutations in the autoimmune regulator gene (AIRE); the encoded Aire protein …

Highly variable expression of tissue‐restricted self‐antigens in human thymus: implications for self‐tolerance and autoimmunity

R Taubert, J Schwendemann… - European journal of …, 2007 - Wiley Online Library
Induction of T cell tolerance in the thymus (central tolerance) is essential for preventing
organ‐specific autoimmunity. This apparent paradox is in part explained by promiscuous …

Effects of Aire on perforin expression in BMDCs via TLR7/8 and its therapeutic effect on type 1 diabetes

Y Zhang, Y Lu, Y Gao, X Liang, R Zhang… - International …, 2023 - Elsevier
Aims Type 1 diabetes, as a kind of autoimmune diseases, usually results from the broken-
down of self-tolerance. Autoimmune regulator (Aire), as a transcription factor, induces …