APECED (autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy) is an autoimmune disease caused by a defect in the AIRE gene, leading to a loss of tolerance to self-antigens due to insufficient expression of self-antigens in the thymus.
La APECED (distrofia ectodérmica poliendocrinopatía autoinmune) es una enfermedad autoinmune causada por un defecto en el gen AIRE, que lleva a una pérdida de tolerancia a autoantígenos debido a la expresión insuficiente de autoantígenos en el timo.
| Front | A disease characterized by a loss of tolerance to self antigens, caused by a breakdown of negative selection in the thymus. It is due to defects in the gene, AIRE, , which encodes a transcriptional regulatory protein that enables many self antigens to be expressed by thymic medullary epithelial cells. Also called autoimmune polyglandular syndrome type I |
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| Back | autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy APECED |
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