Article
Disease-associated mutations in topoisomerase IIβ result in defective NK cells.
The Journal of allergy and clinical immunology - 1 Jun 2022
Broderick Lori, Clay Gwendolyn M, Blum Robert H, Liu Yang, McVicar Rachael, Papes Fabio, Booshehri Laela M, Cowell Ian G, Austin Caroline A, Putnam Christopher D, Kaufman Dan S
Abstract excerpt
BACKGROUND: Hoffman syndrome is a syndromic, inborn error of immunity due to autosomal-dominant mutations in TOP2B, an essential gene required to alleviate topological stress during DNA replication and gene transcription. Although mutations identified in patients lead to a block in B-cell development and the absence of circulating B cells, an effect on natural killer (NK) cells was not previously examined....
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