TY - JOUR
T1 - Defects in DNA replication hit NK cells and neutrophils
AU - Ley, Klaus
N1 - Funding Information:
The author was supported for neutrophil work by NIH grant P01 HL078784
PY - 2017/5/1
Y1 - 2017/5/1
N2 - 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.
AB - 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.
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U2 - 10.1172/JCI93835
DO - 10.1172/JCI93835
M3 - Review article
C2 - 28414291
AN - SCOPUS:85018992925
SN - 0021-9738
VL - 127
SP - 1616
EP - 1617
JO - Journal of Clinical Investigation
JF - Journal of Clinical Investigation
IS - 5
ER -