Which genetic disorder features partial oculocutaneous albinism and susceptibility to recurrent infections?

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Chédiak-Higashi syndrome is characterized by partial oculocutaneous albinism due to a defect in the lysosomal trafficking of melanin-producing cells, leading to reduced pigmentation in the skin, hair, and eyes. This condition also presents with immunodeficiency, which results in increased susceptibility to recurrent infections. The underlying cause of these symptoms is a mutation in the LYST gene, which affects the ability of immune cells to respond effectively to pathogens.

Individuals with Chédiak-Higashi syndrome often exhibit features such as recurrent bacterial infections, lymphohistiocytosis, neurological complications, and the distinct hypopigmentation associated with albinism. Therefore, the combination of partial albinism and a heightened risk for infections is a hallmark of this syndrome, making it the correct answer.

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