Article
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
American journal of human genetics - 4 Apr 2024
van der Made Caspar I, Kersten Simone, Chorin Odelia, Engelhardt Karin R, Ramakrishnan Gayatri, Griffin Helen, Schim van der Loeff Ina, Venselaar Hanka, Rothschild Annick Raas, Segev Meirav, Schuurs-Hoeijmakers Janneke H M, Mantere Tuomo, Essers Rick, Esteki Masoud Zamani, Avital Amir L, Loo Peh Sun, Simons Annet, Pfundt Rolph, Warris Adilia, Seyger Marieke M, van de Veerdonk Frank L, Netea Mihai G, Slatter Mary A, Flood Terry, Gennery Andrew R, Simon Amos J, Lev Atar, Frizinsky Shirley, Barel Ortal, van der Burg Mirjam, Somech Raz, Hambleton Sophie, Henriet Stefanie S V, Hoischen Alexander
Abstract excerpt
Mutations in proteasome β-subunits or their chaperone and regulatory proteins are associated with proteasome-associated autoinflammatory disorders (PRAAS). We studied six unrelated infants with three de novo heterozygous missense variants in PSMB10, encoding the proteasome β2i-subunit. Individuals presented with T-B-NK± severe combined immunodeficiency (SCID) and clinical features suggestive of Omenn syndrome,...
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