Article
Partial loss-of-function mutations in GINS4 lead to NK cell deficiency with neutropenia.
JCI insight - 8 Nov 2022
Conte Matilde I, Poli M Cecilia, Taglialatela Angelo, Leuzzi Giuseppe, Chinn Ivan K, Salinas Sandra A, Rey-Jurado Emma, Olivares Nixa, Veramendi-Espinoza Liz, Ciccia Alberto, Lupski James R, Aldave Becerra Juan Carlos, Mace Emily M, Orange Jordan S
Abstract excerpt
Human NK cell deficiency (NKD) is a primary immunodeficiency in which the main clinically relevant immunological defect involves missing or dysfunctional NK cells. Here, we describe a familial NKD case in which 2 siblings had a substantive NKD and neutropenia in the absence of other immune system abnormalities. Exome sequencing identified compound heterozygous variants in Go-Ichi-Ni-San (GINS) complex subunit 4...
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