TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies

Abstract

Monoallelic LOF TCF3 mutations cause a gene-dosage-dependent reduction in wild-type protein expression, B-cell defects, and a dysregulated transcriptome, resulting in immunodeficiency. Tcf3^+/- mice partially recapitulate the human phenotype, underscoring the differences between TCF3 in humans and mice.