Article
Statistical Mechanics Metrics in Pairing and Parsing In Silico and Phenotypic Data of a Novel Genetic NFκB1 (c.T638A) Variant.
Genes - 24 Sept 2023
Chaudhri Eman N, Abbott Jessica M, Islam Naeyma N, Weber Caleb A, Coban Mathew A, Bilgili Ahmet, Squire Jacqueline D, Mantia Sarah, Wierenga Klaas J, Caulfield Thomas R
Abstract excerpt
(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....
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