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Chdiak-Higashi syndrome is a rare autosomal recessive disorder that affects multiple systems of the body, and arises from a mutation in the lysosomal trafficking regulator gene, LYST. It occurs in humans, cattle, white tigers, blue Persian cats and the only known captive albino orca[1].
It is named for Moises Chediak and Otokata Higashi.[2][3][4]
It is a disease with impaired bacteriolysis[5] due to failure of phagolysosome formation. As a result of disordered intracellular trafficking there is impaired lysosome degranulation with phagosomes, so phagocytosed bacteria are not destroyed by the lysosome’s enzymes.
In addition, secretion of lytic secretory granules by cytotoxic T cells is also affected.
The disease is characterised by large lysosome vesicles in phagocytes (neutrophils), which thus have poor bactericidal function, leading to susceptibility to infections, abnormalities in nuclear structure of leukocytes, anemia, and hepatomegaly.
The diagnosis is confirmed by bone marrow smears that show “giant inclusion bodies” in the cells that develop into white blood cells (leukocyte precursor cells). CHS can be diagnosed in an unborn child (prenatally) by examining a sample of hair from a fetal scalp biopsy or testing white blood cells (leukocytes) from a fetal blood sample. [6]
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