IPEX syndrome is a genetic disease due to mutations that disrupt the function of an important transcription factor expressed in subset of CD4 T cells. Individuals with this disease generally begin showing symptoms shortly after birth. This disease is often fatal. One of the most prominent symptoms of IPEX is severe gastrointestinal inflammation accompanied by severe diarrhea. This transcription factor is most likely:

Question

Quizplus · Accepted Answer

IPEX syndrome is caused by mutations in the FoxP3 gene, which encodes a transcription factor expressed in a subset of CD4 T cells called regulatory T cells (Tregs). Tregs play a crucial role in suppressing immune responses and maintaining tolerance to self-antigens. Mutations in FoxP3 lead to a loss or dysfunction of Tregs, resulting in autoimmune symptoms such as severe gastrointestinal inflammation and diarrhea. Therefore, the best choice for the transcription factor disrupted in IPEX syndrome is FoxP3 (choice E).

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