Novel NFkB Variant V213E: Phenotypic Description & Molecular Modeling

Abstract BACKGROUND: Mutations of NFkB1 are a known cause inborn errors immunity resulting in immunodeficiency due to the role as transcriptional regulator immunomodulating proteins. We present patient with diagnosis common variable (CVID), cytopenias massive splenomegaly, and nodular regenerative hyperplasia liver. Our proband, 22-year-old male, presents clinical picture immunodeficiency, has maternal cousin similar gene mutation but differing phenotype. Next generation panel sequencing (NGPS) was utilized discover novel, single point variant NFkB1, V213E, that is our proband. METHODS: The novel single-point V213E NFkB modeled in-silico using I-TASSER homology modeling software. Molecular dynamics simulations both wild type mutant form fitted accommodate were conducted analyzed assess for possible pathogenicity mutation. RESULTS: This replaces Valine Glutamic Acid at position 213 transcription regulator’s sequence. perform molecular analyze proteomic impact difference (MDS) which depicted suppressed ankyrin region death domain protein complex. Analysis proband’s family showed no significant history except NFkB1. CONCLUSION: case highlights heterogeneity phenotype pathogenic variants shown this patient, full penetrance mutation, suggests new through techniques dynamic simulations.