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

Conte, MatildePoli, CeciliaTaglialatela, AngeloLeuzzi, GiuseppeChinn, IvanSalinas, SandraRey, EmmaOlivares, NixaVeramendi, LizCiccia, AlbertoLupsk, JamesOrange, JordanAldave, JuanMace, Emily2023-04-102023-04-102022Conte MI, Poli MC, Taglialatela A, Leuzzi G, Chinn IK, Salinas SA, Rey-Jurado E, Olivares N, Veramendi-Espinoza L, Ciccia A, Lupski JR, Aldave Becerra JC, Mace EM, Orange JS. Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia. JCI Insight. 2022 Nov 8;7(21):e154948. doi: 10.1172/jci.insight.154948https://repositorio.udd.cl/handle/11447/7283enCell BiologyCell cycleImmunologyMonogenic diseasesNK cellsPartial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropeniaArticlehttps://doi.org/10.1172/jci.insight.154948