Question

In a genetic disease resulting from a mutation in the AIRE gene, what cellular process is most affected, leading to autoimmunity, and which specific disease is associated with this gene defect?

A. Negative selection of self-reactive thymocytes; polyglandular autoimmune syndrome Type-1
B. Activation of class I MHC molecules; systemic lupus erythematosus (SLE)
C. Production of regulatory T cells; Wiskott-Aldrich syndrome
D. Inhibition of complement activation; atypical hemolytic uremic syndrome

Answer 1

The cellular process most affected in a genetic disease resulting from a mutation in the AIRE gene is negative selection of self-reactive thymocytes, leading to polyglandular autoimmune syndrome Type-1.

Step-by-step explanation:

In a genetic disease resulting from a mutation in the AIRE gene, the most affected cellular process leading to autoimmunity is negative selection of self-reactive thymocytes. This process ensures that potentially harmful T cells are eliminated in the thymus during development. The specific disease associated with this gene defect is polyglandular autoimmune syndrome Type-1, which is characterized by autoimmunity targeting multiple endocrine organs.