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One hundred thirty-four germ line PU.1 variants and the agammaglobulinemic patients carrying them

24 Jan 2025

Abstract excerpt

ABSTRACT: Leukopoiesis is lethally arrested in mice lacking the master transcriptional regulator PU.1. Depending on the animal model, subtotal PU.1 loss either induces acute myeloid leukemia or arrests early B-cell and dendritic-cell development. Although humans with absolute PU.1 deficiency have not been reported, a small cadre of congenital agammaglobulinemia patients with sporadic, inborn PU.1...

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PMID: 39854693
DOI: 10.1182/blood.2024026683

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