Which triad describes Chediak-Higashi syndrome?

• A. Recurrent infections, thrombocytopenia, eczema
• B. No infections, hyperpigmentation, neuropathy
• C. Recurrent infections, partial albinism, peripheral neuropathy
• D. Recurrent infections, severe neutropenia, eczema

Answer: (C)

Chediak-Higashi syndrome is a lysosomal trafficking disorder where neutrophils and other cells have giant lysosomal granules, impairing phagosome-lysosome fusion and leading to defective bacterial killing. This causes recurrent infections, while pigment cells also have trafficking defects that produce partial albinism, and the nervous system is affected by lysosomal dysfunction, resulting in peripheral neuropathy. Therefore, the combination of recurrent infections, partial albinism, and peripheral neuropathy best fits the syndrome. Other options include features not typical for this condition, such as eczema, severe neutropenia, thrombocytopenia, or hyperpigmentation with no infections.