A 4-year-old child presents with recurrent pyogenic infections, partial albinism, and peripheral blood smear showing giant cytoplasmic granules in neutrophils. Which primary immunodeficiency does this describe?

• A Chronic Granulomatous Disease (CGD)
• B Leukocyte Adhesion Deficiency (LAD)
• C Myeloperoxidase deficiency
• D Chediak-Higashi Syndrome ✓

Explanation

Chediak-Higashi Syndrome is an autosomal recessive disorder caused by mutations in the LYST gene, resulting in defective lysosomal trafficking and formation of giant granules in neutrophils, NK cells, and melanocytes. It presents with partial oculocutaneous albinism, recurrent bacterial infections, and giant peroxidase-positive granules on peripheral smear. CGD is characterised by absent NADPH oxidase activity (abnormal NBT test), and LAD by absent CD18 causing inability of neutrophils to adhere and migrate.

Reference: Ananthanarayan & Paniker's Textbook of Microbiology, 11th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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