Which congenital condition is associated with dysfunction in phagolysosome formation?

Chediak-Higashi disease is the correct answer because it is characterized by a defect in the lysosomal trafficking process that leads to impaired phagolysosome formation. This condition is caused by mutations in the LYST (lysosomal trafficking regulator) gene, which plays a crucial role in the fusion of lysosomes with phagosomes. The dysfunction results in ineffective killing of pathogens by white blood cells, leading to increased susceptibility to infections.

The clinical manifestations of Chediak-Higashi disease include immunodeficiency, partial oculocutaneous albinism due to melanocyte dysfunction, and neurological problems due to the accumulation of the abnormal lysosomal granules in various cells. This combination of symptoms underscores the critical role that proper lysosomal function plays in both immunity and cellular health.

In contrast, chronic granulomatous disease is associated with defects in the NADPH oxidase enzyme complex, leading to impaired reactive oxygen species production, which primarily affects the ability of phagocytes to kill bacteria. Sandhoff disease is a type of GM2 gangliosidosis caused by hexosaminidase A deficiency, affecting lipid metabolism rather than phagolysosomal fusion. Leukocyte adhesion deficiency results from defects in the adhesion molecules necessary for leukocyte