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What is chediak-Higashi syndrome and what happens in it?
CHEDIAK HIGASHI SYNDROME is an autosomal recessive immunodeficiency disorder
The CHS gene affects the synthesis and/or maintenance of storage/secretory granules in various types of cells like lysosomes of leukocytes, melanosomes of melanocytes etc
the affected individual has INCREASED SUSCEPTIBILITY TO PYOGENIC INFECTIONS the organism is phagocytosed normally but they do not fuse with the lysosome and intracelular killing is defective.
other features are ;
from what i read :
:arrow: DEFECT IN MICROTUBULE POLYMERIZATION.
:arrow: delayed fusion of phagosome with lysosomes in leukocytes...thus no phagocytosis of bacteria...recurrent infections common.
:arrow: increased fusion of melanosomes in melanocytes....albinism
:arrow: granular defects in NK cells and platelets
so to tell about it in one sentence...there will be chemotactic ,degranulation defects , no NK cell activity ,partial albinism.
KEEP IN MIND ,,,,ALBINISM ,,IT IS YOUR GAID TO ANSWER SUCH IMMUNE Q
In chediak higashi syndrome,
mutation in LYST gene -> Lysosomal trafficking defect -> phagosomes not targeted to lysosomes -> phagolysosome not formed - immunity compromised -> decreased immunity, neutropenia, partial albinism, peripheral neuropathy, defect in microtubule polymerization.
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