Article
Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.
Frontiers in immunology - 1 Jan 2022
Ma Xiaopeng, Wang Yaping, Wu Peng, Kang Meiyun, Hong Yue, Xue Yao, Chen Chuqin, Li Huimin, Fang Yongjun
Abstract excerpt
WHIM syndrome, an extremely rare congenital disease with combined immunodeficiency, is mainly caused by heterozygous gain-of-function mutation in the CXCR4 gene. There have been no previous case reports of WHIM syndrome with Kawasaki disease. We herein report a case of a boy who developed Kawasaki disease at the age of 1 year. After treatment, the number of neutrophils in his peripheral blood decreased...
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