Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

ABSTRACT:

Purpose

Transcription factor 3 (TCF3) encodes 2 transcription factors generated by alternative splicing, E12 and E47, which contribute to early lymphocyte differentiation. In humans, autosomal dominant (AD) E47 transcription factor deficiency is an inborn error of immunity characterized by B-cell deficiency and agammaglobulinemia. Only the recurrent de novo p.E555K pathogenic variant has been associated with this disease and acts via a dominant-negative (DN) mechanism. In this study, we describe the first Asian patient with agammaglobulinemia caused by the TCF3 p.E555K variant and provide insights into the structure and function of this variant.

Methods

TCF3 variant was identified by inborn errors of immunity-related gene panel sequencing. The variant E555K was characterized

SUBMITTER: Utsumi T 

PROVIDER: S-EPMC11286708 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature