Question

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by a defect in

a. cathepsin L
b. a transcription factor - AIRE - that regulates tissue-specific gene expression in the thymus
c. the production of regulatory CD4 T cells
d. FoxP3
e. T-cell receptor gene rearrangement.

Answer 1

APECED is caused by a defect in a transcription factor - AIRE - that regulates tissue-specific gene expression in the thymus.

Step-by-step explanation:

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is caused by a defect in a transcription factor - AIRE - that regulates tissue-specific gene expression in the thymus. AIRE plays a crucial role in the negative selection of self-reactive T cells in the thymus, ensuring the removal of T cells that would potentially cause autoimmune responses. In the absence of functional AIRE, self-reactive T cells escape negative selection and can lead to the development of autoimmune diseases.