Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia

Journal
JCI Insight
ISSN
2379-3708
Date Issued
2022
Author(s)
Matilde I. Conte
M. Cecilia Poli
Angelo Taglialatela
Giuseppe Leuzzi
Ivan K. Chinn
Sandra A. Salinas
Nixa Olivares
Liz Veramendi-Espinoza
Alberto Ciccia
James R. Lupski
Juan Carlos Aldave Becerra
Emily M. Mace
Jordan S. Orange
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85141893691
WoS ID
WOS:000884461500001
DOI
URL
URL Institutional Repository
Cite this document
Conte, M. I., Poli, M. C., Taglialatela, A., Leuzzi, G., Chinn, I. K., Salinas, S. A., Rey-Jurado, E., Olivares, N., Veramendi-Espinoza, L., Ciccia, A., Lupski, J. R., Aldave Becerra, J. C., Mace, E. M., & Orange, J. S. (2022). Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight, 7(21), e154948. https://doi.org/10.1172/jci.insight.154948
Subjects
cell division

; 

chromosomal proteins, non-histone

; 

dna replication

; 

humans

; 

killer cells, natural

; 

mutation

; 

neutropenia

; 

gins4

; 

interferon consensus sequence binding protein

; 

interleukin 15

; 

interleukin 7

; 

protein

; 

t lymphocyte receptor

; 

toll like receptor 3

; 

unclassified drug

; 

gins4 protein, human

; 

nonhistone protein

; 

article

; 

brdu assay

; 

cd4+ t lymphocyte

; 

cd8+ t lymphocyte

; 

cell cycle arrest

; 

cell cycle progression

; 

cell differentiation

; 

cell maturation

; 

cell proliferation

; 

controlled study

; 

crystal structure

; 

cytology

; 

cytotoxicity

; 

density gradient centrifugation

; 

developmental delay

; 

dna damage

; 

dna replication

; 

dna synthesis

; 

down regulation

; 

flow cytometry

; 

fluorescence activated cell sorting

; 

gata2 deficiency

; 

gene expression

; 

gene frequency

; 

genetic analysis

; 

genetic transfection

; 

genotype

; 

hematopoietic stem cell transplantation

; 

herpes labialis

; 

heterozygosity

; 

human

; 

human cell

; 

immune system

; 

in vitro study

; 

loss of function mutation

; 

microarray analysis

; 

minimum inhibitory concentration

; 

mucosal-associated invariant t cell

; 

neutropenia

; 

peripheral blood mononuclear cell

; 

phenotype

; 

platelet count

; 

protein expression

; 

rna isolation

; 

sanger sequencing

; 

seizure

; 

sequence alignment

; 

t lymphocyte

; 

vaccination

; 

western blotting

; 

whole exome sequencing

; 

cell division

; 

genetics

; 

mutation

; 

natural killer cell