A NOVEL POINT MUTATION IN THE AIRE GENE ASSOCIATED WITH AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1

VITOZZI, SUSANA; CORREA, SILVIA; LOZANO, ALEJANDRO; FERNÁNDEZ, EDUARDO; QUIROGA, RODRIGO

IMMUNOGENETICS

SPRINGER

Lugar: Berlin; Año: 2023

0093-7711

p dir="ltr" style="line-height: 1.38; text-align: justify; margin-top: 0pt; margin-bottom: 0pt;" id="docs-internal-guid-dcd338c3-7fff-b0ce-4984-101645c8898b">The autoimmune regulator gene AIRE plays an essential role in the establishment of immune tolerance and the prevention of autoimmunity. In the thymus, AIRE is involved in the elimination of self-reactive T cells with high TCR affinity and the positive selection of regulatory Foxp3-positive cells with intermediate TCR affinity. This transcription factor plays a critical role in promoting self-tolerance in the thymus by regulating the expression of a large number of self-antigens that share the common feature of being tissue-restricted in their expression pattern in the periphery.