{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["van der Made CI"],"funding":["European Research Council","Wellcome Trust"],"pagination":["791-804"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11023912"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["111(4)"],"pubmed_abstract":["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, including diarrhea, alopecia, and desquamating erythematous rash. Remaining T cells had limited T cell receptor repertoires, a skewed memory phenotype, and an elevated CD4/CD8 ratio. Bone marrow examination indicated severely impaired B cell maturation with limited V(D)J recombination. All infants received an allogeneic stem cell transplant and exhibited a variety of severe inflammat"],"journal":["American journal of human genetics"],"pubmed_title":["Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome."],"pmcid":["PMC11023912"],"funding_grant_id":["310372"],"pubmed_authors":["Lev A","Simons A","Griffin H","Gennery AR","Loo PS","Esteki MZ","Segev M","van de Veerdonk FL","Schuurs-Hoeijmakers JHM","Kersten S","Essers R","Pfundt R","Simon AJ","Schim van der Loeff I","Avital AL","Engelhardt KR","Slatter MA","Mantere T","Frizinsky S","Flood T","Venselaar H","Netea MG","Barel O","Henriet SSV","Chorin O","Rothschild AR","Ramakrishnan G","Seyger MM","van der Burg M","Hambleton S","van der Made CI","Hoischen A","Warris A","Somech R"],"additional_accession":[]},"is_claimable":false,"name":"Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.","description":"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, including diarrhea, alopecia, and desquamating erythematous rash. Remaining T cells had limited T cell receptor repertoires, a skewed memory phenotype, and an elevated CD4/CD8 ratio. Bone marrow examination indicated severely impaired B cell maturation with limited V(D)J recombination. All infants received an allogeneic stem cell transplant and exhibited a variety of severe inflammat","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Apr","modification":"2026-06-01T22:16:06.205Z","creation":"2025-04-04T00:34:19.961Z"},"accession":"S-EPMC11023912","cross_references":{"pubmed":["38503300"],"doi":["10.1016/j.ajhg.2024.02.013"]}}