Defect in Chediak Hegashi syndrome is?
Correct Answer: Fusion of lysosome
Description: 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).
Category:
Pathology
Get More
Subject Mock Tests
Practice with over 200,000 questions from various medical subjects and improve your knowledge.
Attempt a mock test nowMock Exam
Take an exam with 100 random questions selected from all subjects to test your knowledge.
Coming SoonGet More
Subject Mock Tests
Try practicing mock tests with over 200,000 questions from various medical subjects.
Attempt a mock test now