Germline biallelic mutation affecting the transcription factor Helios causes pleiotropic defects of immunity.

ABSTRACT: Helios, a member of the Ikaros family of transcription factors, is predominantly expressed in developing thymocytes, activated T cells, and regulatory T cells (T_regs). Studies in mice have emphasized its role in maintenance of T_reg immunosuppressive functions by stabilizing Foxp3 expression and silencing the Il2 locus. However, its contribution to human immune homeostasis and the precise mechanisms by which Helios regulates other T cell subsets remain unresolved. Here, we investigated a patient with recurrent respiratory infections and hypogammaglobulinemia and identified a germline homozygous missense mutation in IKZF2 encoding Helios (p.Ile325Val). We found that Helios^I325V retains DNA binding and dimerization properties but loses interactio

SUBMITTER: Shahin T 

PROVIDER: S-EPMC7612971 | biostudies-literature | 2021 Nov

REPOSITORIES: biostudies-literature