Association of Neurologic and Immunologic Manifestations in a Patient With Bcl11b Mutation: A Case Report and Review of the Literature Publisher



Khalilian S ; Shahrooei M ; Fayezi A ; Ghafourifard S ; Miryounesi M
Source: Gene Reports Published:2026

Abstract

BCL11B is a transcription factor with key roles in the central nervous system and T cell differentiation. It regulates the expression of several genes contributing to several pathways. Here, we report a 17-year old Iranian boy, suspected of an immunodeficiency syndrome with neurologic manifestations. Trio whole exome sequencing revealed a de novo heterozygous mutation in the BCL11B gene (NM_001282238:exon3: c.G703T) in the patient which leads to stop codon (p.E235X). This variant has not been previously reported in ClinVar. However, it seems to be likely pathogenic based on most predictors. In addition to reporting this novel BCL11B variant, we provided an overview of reported variants in this gene and their clinical manifestations. This data can help in establishment of appropriate diagnostic approaches for intellectual developmental disorder with dysmorphic face, speech delay, and T-cell abnormality. © 2026 Published by Elsevier Inc.