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单词 Chediak Higashi syndrome
释义

Chediak Higashi syndrome

英语百科

Chédiak–Higashi syndrome

Chédiak–Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. It occurs in humans, cattle, blue Persian cats, Australian blue rats, mice, mink, foxes, and the only known captive albino orca.

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更新时间:2025/6/22 5:53:00