What disease is characterized by large lysosomal vesicles in phagocytes?

Chediak-Higashi disease is characterized by the accumulation of large lysosomal vesicles in phagocytes, which is due to a defect in lysosomal trafficking. This genetic disorder results from mutations in the LYST gene, leading to ineffective lysosomal fusion and the formation of these enlarged granules. The abnormal granules can impair the function of phagocytes, which affects the immune response and plays a significant role in the clinical manifestations of the disease.

Individuals with Chediak-Higashi disease often present with immunodeficiency, increased susceptibility to infections, and may exhibit neurological abnormalities. Recognizing the presence of large lysosomal vesicles in phagocytes can be crucial for diagnosis and helps differentiate this condition from others that may affect the immune system but do not share this specific histopathological finding.