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| Primary immunodeficiency or monogenic inflammatory bowel disease v9.9 | GINS4 |
Boaz Palterer gene: GINS4 was added gene: GINS4 was added to Primary immunodeficiency or monogenic inflammatory bowel disease. Sources: Literature Mode of inheritance for gene: GINS4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GINS4 were set to 36345943 Phenotypes for gene: GINS4 were set to NK cell deficiency; neutropenia; viral infections Penetrance for gene: GINS4 were set to unknown Review for gene: GINS4 was set to RED Added comment: Conte et al. described 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 (GINS4, also known as SLD5), an essential component of the human replicative helicase, which we demonstrate to have a damaging impact upon the expression and assembly of the GINS complex. Cells derived from affected individuals and a GINS4-knockdown cell line demonstrate delayed cell cycle progression, without signs of improper DNA synthesis or increased replication stress. Sources: Literature |
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