Article
Monoallelic PSMB8 variants cause PRAAS with immunodeficiency through impaired immunoproteasome assembly.
American journal of human genetics - 4 Jun 2026
Wijngaard Robin, van der Made Caspar I, Kalkan Uçar Sema, Ramakrishnan Gayatri, Wang Man, Brand Johannes, Rosenfeld Jill A, Vogel Tiphanie P, Nicholas Sarah K, Weisz-Hubshman Monika, van Karnebeek Clara D M, Allenspach Eric J, Gardiner Taylor E, Perera Kimmantudawage Sumudu, Stark Zornitza, Armstrong Ruth K, Campbell Janine, Volpi Stefano, Drago Enrico, Gattorno Marco, Grossi Alice, Ceccherini Isabella, Cabrera-Orefice Alfredo, Siebels Bente, Mair Thomas, Schlüter Hartmut, Smeets Ruben L, van Beek Ronald, Goebel Ingrid, Küchler Katrin, Gersting Søren W, Hoischen Alexander, Vissers Lisenka E L M, Wevers Ron A, Meyer-Schwesinger Catherine, Wortmann Saskia B, Oud Machteld M, Guerrero-Castillo Sergio
Abstract excerpt
Monoallelic variants in catalytic immunoproteasome subunits have recently been linked to proteasome-associated autoinflammatory syndromes with immunodeficiency (PRAAS-ID), yet their molecular mechanisms and clinical spectra are not fully defined. In this study, seven individuals from five unrelated families carrying five distinct monoallelic PSMB8 variants were identified. Individuals presented with...
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