Eman N Chaudhri, Jessica M Abbott, Naeyma N Islam, Caleb A Weber, Mathew A Coban, Ahmet Bilgili, Jacqueline D Squire, Sarah Mantia, Klaas J Wierenga, Thomas R Caulfield
(1) Background: Mutations in NFκB1 , a transcriptional regulator of immunomodulating proteins, are a known cause of inborn errors of immunity. Our proband is a 22-year-old male with a diagnosis of common variable immunodeficiency (CVID), cytopenias with massive splenomegaly, and nodular regenerative hyperplasia of the liver. Genetic studies identified a novel, single-point mutation variant in NFκB1 , c. T638A p. V213E. (2) Methods: Next-generation panel sequencing of the patient uncovered a novel single-point mutation in the NFκB1 gene that was modeled using the I-TASSER homology-modeling software, and molecular dynamics were assessed using the YASARA2 software (version 20...
September 24, 2023: Genes