Which is seen in Chediak-Higashi syndrome:
A. LeukocytosisB. Neutropenia
C. Defective microbial killing
D. Presence of large granules in neutrophil
E. Immunodeficiency
The Answer is. (B) Neutropenia; (C) Defective
microbial killing; (D) Presence of large granules in neutrophil; (E)
Immunodeficiency:
• Chediak-Higashi syndrome is a rare disease with
autosomal recessive inheritance due to defect in lysosomal transport protein
LYST, encoded by genes CHS 1 at 1q 42. The protein is required for normal
packaging and disbursement of granules.
• There is hypopigmentation of skin, eyes and hair,
photophobia, nystagmus and giant
peroxidase positive inclusions in the cytoplasm of leukocytes,
• Neutropenia occurs
• Defective microbial killing, impaired chemotaxis are
seen
• Immune deficiency (Primary) can occur
