Article
Genotype characteristics and immunological indicator evaluation of 311 hemophagocytic lymphohistiocytosis cases in China.
Orphanet journal of rare diseases - 6 May 2020
Zhang Jia, Sun Yuan, Shi Xiaodong, Zhang Rui, Wang Yini, Xiao Juan, Cao Jing, Gao Zhuo, Wang Jingshi, Wu Lin, Wei Wei, Wang Zhao
Abstract excerpt
BACKGROUND: Primary hemophagocytic lymphohistiocytosis (pHLH) is a genetic disorder that is classically diagnosed by genetic testing. Secondary HLH (sHLH) is usually caused by infections, malignancies, or autoimmune disorders, but may display some mutations or polymorphisms. Rapid immunological assays examining natural killer (NK) cell activity, degranulation function (CD107a), and protein expression related to...
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