Article
Novel frameshift variants expand the map of the genetic defects in IRF2BP2.
Frontiers in immunology - 1 Jan 2023
García-Aznar José María, Maneiro Pampín Emilia, García Ramos Maite, Acuña Pérez María José, Paz Gandiaga Nerea, Minguell Domingo Laura, Calavia Olga, Soler-Palacin Pere, Colobran Roger, Novoa Bolívar Erika M, Ocejo Vinyals Javier Gonzalo
Abstract excerpt
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,...
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