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J Clin Invest. 2017 May 1;127(5):1616-1617. doi: 10.1172/JCI93835. Epub 2017 Apr 17.

Defects in DNA replication hit NK cells and neutrophils.

Abstract

Patients who present with unique immunological phenotypes provide an opportunity to better understand defect-driving mutations. In this issue of the JCI, Cottineau and colleagues characterize 5 individuals who exhibited growth restriction, facial deformities, and a history of bacterial and viral infection. Further characterization revealed that these patients were neutropenic and NK cell deficient. These phenotypes were unexpectedly linked to mutations in the gene encoding a subunit of the Go-Ichi-Ni-San (GINS) complex, which is essential for DNA replication prior to cell division. Together, the results of this study lay the groundwork for future studies to explore the role of DNA replication in immune cell generation and function.

PMID:
28414291
PMCID:
PMC5409063
DOI:
10.1172/JCI93835
[Indexed for MEDLINE]
Free PMC Article

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