Defect in Chediak Hegashi syndrome is?
Ans. is 'a' i.e., Fusion of lysosome Chediak higashi syndrome* It is an autosomal recessive disorder caused by mutation in LYST gene, which codes for a protein known as lysosomal trafficking regulator. Defect in this protein leads to disruption of size, structure and function of lysosomes.* Lysosomes cannot fuse with phagosome to form phagolysosomes. Thus there is impaired bactericidal activity due to impaired phagolysosome formation.* Neutrophils also have defective chemotaxis. The neutrophils (polymorphs) shows giant primary granules. The other cells affected are melanocytes (causing albinism), platelets (causing bleeding) and schwann cells (causing neurological symptoms like peripheral neuropathy).
Fusion of lysosome
T-cells
B-cells
Complement
Immunity