NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis

NBAS, a gene involved in cytotoxic degranulation, is recurrently mutated in pediatric hemophagocytic lymphohistiocytosis

Abstract Hemophagocytic lymphohistiocytosis (HLH), particularly primary HLH (pHLH), is a rare, life-threatening disease. Germline genetic deficiency of 12 known HLH genes impairs cytotoxic degranulation in natural killer (NK) cells or cytotoxic T lymphocytes (CTLs) and contributes to pHLH developmen...

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Bibliographic Details
Main Authors: Xiaoman Bi, Qing Zhang, Lei Chen, Dan Liu, Yueying Li, Xiaoxi Zhao, Ya Zhang, Liping Zhang, Jingkun Liu, Chaoyi Wu, Zhigang Li, Yunze Zhao, Honghao Ma, Gang Huang, Xin Liu, Qian-fei Wang, Rui Zhang
Format: Article
Language:English
Published: BMC 2022-07-01
Series:Journal of Hematology & Oncology
Subjects:
Hemophagocytic lymphohistiocytosis
Germline variants
Trios
NBAS
NK-cell
Online Access:https://doi.org/10.1186/s13045-022-01318-z

Internet

https://doi.org/10.1186/s13045-022-01318-z

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