Articles with "arpc1b deficiency" as a keyword



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Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait?

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Published in 2022 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2022.919237

Abstract: Actin-related protein 2/3 complex subunit 1B (ARPC1B) deficiency is a recently described inborn error of immunity (IEI) presenting with combined immunodeficiency and characterized by recurrent infections and thrombocytopenia. Manifestations of immune dysregulation, including colitis, vasculitis,… read more here.

Keywords: radiosensitivity; disease trait; arpc1b deficiency;