A Bcl11b^N797K variant isolated from an immunodeficient patient inhibits early thymocyte development in mice.

ABSTRACT: BCL11B is a transcription factor with six C₂H₂-type zinc-finger domains. Studies in mice have shown that Bcl11b plays essential roles in T cell development. Several germline heterozygous BCL11B variants have been identified in human patients with inborn errors of immunity (IEI) patients. Among these, two de novo mis-sense variants cause asparagine (N) to lysine (K) replacement in distinct zinc-finger domains, BCL11B^N441K and BCL11B^N807K. To elucidate the pathogenesis of the BCL11B^N807K variant, we generated a mouse model of BCL11B^N807K by inserting the corresponding mutation, Bcl11b^N797K, into the mouse genome. In Bcl11b^+/N797K mice, the proportion of immature CD4^-CD8

SUBMITTER: Matsumoto K 

PROVIDER: S-EPMC10940544 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature