Novel frameshift variants expand the map of the genetic defects in IRF2BP2.

ABSTRACT:

Background

At present, the knowledge about disease-causing mutations in IRF2BP2 is very limited because only a few patients affected by this condition have been reported. As previous studies have described, the haploinsufficiency of this interferon transcriptional corepressors leads to the development of CVID. Very recently, a more accurate phenotype produced by truncating variants in this gene has been defined, manifesting CVID with gastrointestinal inflammatory symptoms and autoimmune manifestations.

Methods

We analyzed 5 index cases with suspected primary immunodeficiency by high throughput sequencing. They were submitted for a genetic test with a panel of genes associated with immune system diseases, including IRF2BP2. The screening of SNVs, indels and CNVs fulfilling th

SUBMITTER: Garcia-Aznar JM 

PROVIDER: S-EPMC10593445 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature