Dominant negative variants in IKZF2 cause ICHAD syndrome, a new disorder characterised by immunodysregulation, craniofacial anomalies, hearing impairment, athelia and developmental delay.

ABSTRACT:

Background

Helios (encoded by IKZF2), a member of the Ikaros family of transcription factors, is a zinc finger protein involved in embryogenesis and immune function. Although predominantly recognised for its role in the development and function of T lymphocytes, particularly the CD4⁺ regulatory T cells (Tregs), the expression and function of Helios extends beyond the immune system. During embryogenesis, Helios is expressed in a wide range of tissues, making genetic variants that disrupt the function of Helios strong candidates for causing widespread immune-related and developmental abnormalities in humans.

Methods

We performed detailed phenotypic, genomic and functional investigations on two unrelated individuals with a phenotype of immune dysregulation com

SUBMITTER: Mohajeri A 

PROVIDER: S-EPMC11206234 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature