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

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 development. Howeve...

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Detalles Bibliográficos
Autores principales: Bi, Xiaoman, Zhang, Qing, Chen, Lei, Liu, Dan, Li, Yueying, Zhao, Xiaoxi, Zhang, Ya, Zhang, Liping, Liu, Jingkun, Wu, Chaoyi, Li, Zhigang, Zhao, Yunze, Ma, Honghao, Huang, Gang, Liu, Xin, Wang, Qian-fei, Zhang, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Correspondence
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9331571/
https://www.ncbi.nlm.nih.gov/pubmed/35902954
http://dx.doi.org/10.1186/s13045-022-01318-z

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