{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T10:50:43Z","timestamp":1785408643736,"version":"3.56.0"},"reference-count":32,"publisher":"Rockefeller University Press","issue":"1","license":[{"start":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T00:00:00Z","timestamp":1763424000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-21-CE17-0005"],"award-info":[{"award-number":["ANR-21-CE17-0005"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"Agence Nationale de la Recherche","doi-asserted-by":"publisher","award":["ANR-22-RAR4-0001-01"],"award-info":[{"award-number":["ANR-22-RAR4-0001-01"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Nantes University Hospital","award":["RC22_0020"],"award-info":[{"award-number":["RC22_0020"]}]},{"DOI":"10.13039\/501100002915","name":"French Foundation for Medical Research","doi-asserted-by":"publisher","award":["EA20170638020"],"award-info":[{"award-number":["EA20170638020"]}],"id":[{"id":"10.13039\/501100002915","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100007492","name":"Fondation Bettencourt-Schueller","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100007492","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100017337","name":"Imagine Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100017337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100013414","name":"R\u00e9gion des Pays de la Loire","doi-asserted-by":"publisher","award":["TN_2021_AAP_UPS-NDDECIPHER_INSERM_154550"],"award-info":[{"award-number":["TN_2021_AAP_UPS-NDDECIPHER_INSERM_154550"]}],"id":[{"id":"10.13039\/501100013414","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Mutuelles AXA"},{"name":"I-SITE NExT"}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2026,1,5]]},"abstract":"<jats:p>Background and objective: Despite significant advances, the molecular basis and thus patient-tailored therapeutic options for inborn errors of immunity remain unknown in a significant number of patients. Methods: We investigated three patients from unrelated families with inborn errors of immunity and severe liver disease. Clinical, immunological, and histological (only in one patient for the latter) data were collected, and trio whole exome sequencing was performed. Results: Whole exome sequencing identified heterozygous de novo variants in PSMB10 (p.Asp205Ala and p.Ser208Phe), a gene encoding a specific subunit of the immuno- and thymoproteasome. Analysis showed poor integration into the proteasome complex of PSMB10 variants, thereby exerting a dominant-negative effect on the PSMB9 subunit. Conclusion: Dominant PSMB10 variants should be considered in genetic screening for SCID and CID, especially in patients with associated liver disease. Very severe endothelial-like disease before and after HSCT and very poor outcomes after HSCT should weigh up the indication of HSCT.<\/jats:p>","DOI":"10.70962\/jhi.20250096","type":"journal-article","created":{"date-parts":[[2025,9,24]],"date-time":"2025-09-24T06:21:27Z","timestamp":1758694887000},"update-policy":"https:\/\/doi.org\/10.70962\/jhi.crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Novel de novo dominant\n                    <i>PSMB10<\/i>\n                    variants in three patients with immune deficiency and liver disease"],"prefix":"10.70962","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4189-996X","authenticated-orcid":true,"given":"Benjamin","family":"Fournier","sequence":"first","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm UMR 1163, Institut Imagine 2 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-7400-8363","authenticated-orcid":true,"given":"L\u00e9a","family":"Poirier","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/049kkt456","id-type":"ROR","asserted-by":"publisher"}],"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du Thorax 3 , Nantes,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4953-5124","authenticated-orcid":true,"given":"Vincent","family":"Abramowski","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory \u201cGenome Dynamics in the Immune System,\u201d INSERM UMR 1163 4 , Paris,","place":["France"]},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer 5 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6527-7893","authenticated-orcid":true,"given":"Etienne","family":"Merlin","sequence":"additional","affiliation":[{"name":"Clermont-Ferrand University Hospital 6 Department of Pediatrics, , Clermont-Ferrand,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"Clermont Auvergne University, INSERM 7 , Clermont-Ferrand,","place":["France"]},{"name":"Clermont Auvergne University, INRA, UMR 1019 UNH, ECREIN 8 , Clermont-Ferrand,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-3215-3452","authenticated-orcid":true,"given":"H\u00e9l\u00e8ne","family":"Deutsch","sequence":"additional","affiliation":[{"name":"University Hospital 9 Department of Pediatric Onco-Hematology, , Vandoeuvre-les-Nancy,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5926-8437","authenticated-orcid":true,"given":"Paul","family":"Bastard","sequence":"additional","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"INSERM U1163 10 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Paris Cit\u00e9 University, Imagine Institute 11 , Paris,","place":["France"]},{"name":"The Rockefeller University 12 St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, , New York, NY,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3124-887X","authenticated-orcid":true,"given":"Isabelle","family":"Callebaut","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/05abgg682","id-type":"ROR","asserted-by":"publisher"}],"name":"Sorbonne Universit\u00e9, Mus\u00e9um National d'Histoire Naturelle, UMR CNRS 7590, Institut de Min\u00e9ralogie, de Physique des Mat\u00e9riaux et de Cosmochimie, IMPMC 13 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8788-5056","authenticated-orcid":true,"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/05rq3rb55","id-type":"ROR","asserted-by":"publisher"}],"name":"Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm UMR 1163, Institut Imagine 2 , Paris,","place":["France"]},{"name":"Study Center for Primary Immunodeficiencies, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 14 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2822-161X","authenticated-orcid":true,"given":"J\u00e9r\u00e9mie","family":"Rosain","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"INSERM U1163 10 Laboratory of Human Genetics of Infectious Diseases, Necker Branch, , Paris,","place":["France"]},{"name":"Study Center for Primary Immunodeficiencies, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 14 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-0465","authenticated-orcid":true,"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/049kkt456","id-type":"ROR","asserted-by":"publisher"}],"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du Thorax 3 , Nantes,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0095-1319","authenticated-orcid":true,"given":"St\u00e9phane","family":"B\u00e9zieau","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/049kkt456","id-type":"ROR","asserted-by":"publisher"}],"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du Thorax 3 , Nantes,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/016ncsr12","id-type":"ROR","asserted-by":"publisher"}],"name":"Nantes Universit\u00e9, CHU de Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale 15 , Nantes,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3081-2478","authenticated-orcid":true,"given":"Monique","family":"Fabre","sequence":"additional","affiliation":[{"name":"Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 16 Department of Pathology, , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9087-4411","authenticated-orcid":true,"given":"Martin","family":"Castelle","sequence":"additional","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8941-0935","authenticated-orcid":true,"given":"B\u00e9n\u00e9dicte","family":"Neven","sequence":"additional","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institut, INSERM UMR 1163 17 Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6719-3693","authenticated-orcid":true,"given":"Despina","family":"Moshous","sequence":"additional","affiliation":[{"name":"Paediatric Haematology-Immunology and Rheumatology Unit, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 1 , Paris,","place":["France"]},{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory \u201cGenome Dynamics in the Immune System,\u201d INSERM UMR 1163 4 , Paris,","place":["France"]},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer 5 , Paris,","place":["France"]},{"name":"Centre de r\u00e9f\u00e9rence des d\u00e9ficits Immunitaires H\u00e9r\u00e9ditaires, Necker Hospital, AP-HP.Centre - Universit\u00e9 Paris Cit\u00e9 18 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5987-0463","authenticated-orcid":true,"given":"Jean-Pierre","family":"de Villartay","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/02vjkv261","id-type":"ROR","asserted-by":"publisher"}],"name":"Universit\u00e9 Paris Cit\u00e9, Imagine Institute, Laboratory \u201cGenome Dynamics in the Immune System,\u201d INSERM UMR 1163 4 , Paris,","place":["France"]},{"name":"Equipe Labellis\u00e9e Ligue Nationale Contre le Cancer 5 , Paris,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3729-7878","authenticated-orcid":true,"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"additional","affiliation":[{"id":[{"id":"https:\/\/ror.org\/049kkt456","id-type":"ROR","asserted-by":"publisher"}],"name":"Nantes Universit\u00e9, CNRS, INSERM, l\u2019institut du Thorax 3 , Nantes,","place":["France"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2025,11,18]]},"reference":[{"key":"2025111809543826300_bib1","doi-asserted-by":"publisher","first-page":"88","DOI":"10.1007\/s10875-024-01692-y","article-title":"Proteasome-associated syndromes: Updates on genetics, clinical manifestations, pathogenesis, and treatment","volume":"44","author":"Zhang","year":"2024","journal-title":"J. Clin. Immunol."},{"key":"2025111809543826300_bib2","doi-asserted-by":"publisher","first-page":"869","DOI":"10.1038\/cr.2016.86","article-title":"The life cycle of the 26S proteasome: From birth, through regulation and function, and onto its death","volume":"26","author":"Livneh","year":"2016","journal-title":"Cell Res."},{"key":"2025111809543826300_bib3","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/s41584-021-00614-1","article-title":"Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases","volume":"17","author":"Aksentijevich","year":"2021","journal-title":"Nat. Rev. Rheumatol."},{"key":"2025111809543826300_bib4","doi-asserted-by":"publisher","first-page":"6819","DOI":"10.1038\/s41467-021-27085-y","article-title":"Heterozygous missense variant of the proteasome subunit \u03b2-type 9 causes neonatal-onset autoinflammation and immunodeficiency","volume":"12","author":"Kanazawa","year":"2021","journal-title":"Nat. Commun."},{"key":"2025111809543826300_bib5","doi-asserted-by":"publisher","first-page":"791","DOI":"10.1016\/j.ajhg.2024.02.013","article-title":"Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit \u03b2-type 10 in six infants with SCID-Omenn syndrome","volume":"111","author":"van der Made","year":"2024","journal-title":"Am. J. Hum. Genet."},{"key":"2025111809543826300_bib6","doi-asserted-by":"publisher","first-page":"1378","DOI":"10.1016\/j.jaci.2024.12.1082","article-title":"Thymic and T-cell intrinsic critical roles associated with Severe Combined Immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10","volume":"155","author":"Kuehn","year":"2025","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025111809543826300_bib9","doi-asserted-by":"publisher","first-page":"2052","DOI":"10.1038\/s41409-021-01378-8","article-title":"EBMT\/ESID inborn errors working party guidelines for hematopoietic stem cell transplantation for inborn errors of immunity","volume":"56","author":"Lankester","year":"2021","journal-title":"Bone Marrow Transpl."},{"key":"2025111809543826300_bib10","doi-asserted-by":"publisher","first-page":"1692","DOI":"10.1038\/s41467-017-01760-5","article-title":"Structure of human immunoproteasome with a reversible and noncompetitive inhibitor that selectively inhibits activated lymphocytes","volume":"8","author":"Santos","year":"2017","journal-title":"Nat. Commun."},{"key":"2025111809543826300_bib11","doi-asserted-by":"publisher","DOI":"10.1111\/pai.13820","article-title":"Inborn errors of immunity caused by defects in the DNA damage response pathways: Importance of minimizing treatment-related genotoxicity","volume":"33","author":"Fournier","year":"2022","journal-title":"Pediatr. Allergy Immunol."},{"key":"2025111809543826300_bib12","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1016\/j.jaci.2018.05.028","article-title":"PROMIDIS\u03b1: A T-cell receptor \u03b1 signature associated with immunodeficiencies caused by V(D)J recombination defects","volume":"143","author":"Berland","year":"2019","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025111809543826300_bib13","doi-asserted-by":"publisher","DOI":"10.1126\/science.adg7492","article-title":"Accurate proteome-wide missense variant effect prediction with AlphaMissense","volume":"381","author":"Cheng","year":"2023","journal-title":"Science"},{"key":"2025111809543826300_bib14","doi-asserted-by":"publisher","first-page":"5975","DOI":"10.1038\/s41598-018-24199-0","article-title":"Defective immuno- and thymoproteasome assembly causes severe immunodeficiency","volume":"8","author":"Treise","year":"2018","journal-title":"Sci. Rep."},{"key":"2025111809543826300_bib15","doi-asserted-by":"publisher","first-page":"8970","DOI":"10.1073\/pnas.94.17.8970","article-title":"The subunits MECL-1 and LMP2 are mutually required for incorporation into the 20S proteasome","volume":"94","author":"Groettrup","year":"1997","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2025111809543826300_bib16","doi-asserted-by":"publisher","first-page":"18599","DOI":"10.1073\/pnas.1009778107","article-title":"Two abundant proteasome subtypes that uniquely process some antigens presented by HLA class I molecules","volume":"107","author":"Guillaume","year":"2010","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"2025111809543826300_bib17","doi-asserted-by":"publisher","first-page":"1190104","DOI":"10.3389\/fimmu.2023.1190104","article-title":"Identification of eight novel proteasome variants in five unrelated cases of proteasome-associated autoinflammatory syndromes (PRAAS)","volume":"14","author":"Papendorf","year":"2023","journal-title":"Front. Immunol."},{"key":"2025111809543826300_bib18","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1016\/j.jaci.2019.11.024","article-title":"PSMB10, the last immunoproteasome gene missing for PRAAS","volume":"145","author":"Sarrabay","year":"2020","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025111809543826300_bib19","doi-asserted-by":"publisher","first-page":"606","DOI":"10.1126\/science.aaa4282","article-title":"IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations","volume":"349","author":"Okada","year":"2015","journal-title":"Science"},{"key":"2025111809543826300_bib20","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1038\/ni791","article-title":"Regulation of the TCRalpha repertoire by the survival window of CD4(+)CD8(+) thymocytes","volume":"3","author":"Guo","year":"2002","journal-title":"Nat. Immunol."},{"key":"2025111809543826300_bib21","doi-asserted-by":"publisher","first-page":"6665","DOI":"10.4049\/jimmunol.176.11.6665","article-title":"An altered T cell repertoire in MECL-1-deficient mice","volume":"176","author":"Basler","year":"2006","journal-title":"J. Immunol."},{"key":"2025111809543826300_bib22","doi-asserted-by":"publisher","first-page":"5548","DOI":"10.4049\/jimmunol.1101064","article-title":"The antiviral immune response in mice devoid of immunoproteasome activity","volume":"187","author":"Basler","year":"2011","journal-title":"J. Immunol."},{"key":"2025111809543826300_bib23","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1016\/1074-7613(94)90043-4","article-title":"Altered peptidase and viral-specific T cell response in LMP2 mutant mice","volume":"1","author":"Van Kaer","year":"1994","journal-title":"Immunity"},{"key":"2025111809543826300_bib24","doi-asserted-by":"publisher","first-page":"1207","DOI":"10.1128\/IAI.01134-07","article-title":"The proteasome immunosubunit multicatalytic endopeptidase complex-like 1 is a T-cell-intrinsic factor influencing homeostatic expansion","volume":"76","author":"Zaiss","year":"2008","journal-title":"Infect. Immun."},{"key":"2025111809543826300_bib25","doi-asserted-by":"publisher","first-page":"3385","DOI":"10.1002\/eji.200839117","article-title":"Critical role for the immunoproteasome subunit LMP7 in the resistance of mice to Toxoplasma gondii infection","volume":"39","author":"Tu","year":"2009","journal-title":"Eur. J. Immunol."},{"key":"2025111809543826300_bib26","doi-asserted-by":"publisher","first-page":"1580","DOI":"10.3390\/cells11091580","article-title":"The molecular mechanisms governing the assembly of the immuno- and thymoproteasomes in the presence of constitutive proteasomes","volume":"11","author":"Watanabe","year":"2022","journal-title":"Cells"},{"key":"2025111809543826300_bib27","doi-asserted-by":"publisher","first-page":"2162","DOI":"10.1126\/science.286.5447.2162","article-title":"Impaired immunoproteasome assembly and immune responses in PA28\u2212\/\u2212 mice","volume":"286","author":"Preckel","year":"1999","journal-title":"Science"},{"key":"2025111809543826300_bib28","doi-asserted-by":"publisher","first-page":"6859","DOI":"10.4049\/jimmunol.167.12.6859","article-title":"Immunoproteasomes largely replace constitutive proteasomes during an antiviral and antibacterial immune response in the liver","volume":"167","author":"Khan","year":"2001","journal-title":"J. Immunol."},{"key":"2025111809543826300_bib29","doi-asserted-by":"publisher","first-page":"613","DOI":"10.1016\/j.cell.2010.07.036","article-title":"Immunoproteasomes preserve protein homeostasis upon interferon-induced oxidative stress","volume":"142","author":"Seifert","year":"2010","journal-title":"Cell"},{"key":"2025111809543826300_bib30","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1016\/j.jaci.2021.03.010","article-title":"Successful treatment of a novel type I interferonopathy due to a de novo PSMB9 gene mutation with a Janus kinase inhibitor","volume":"148","author":"Kataoka","year":"2021","journal-title":"J. Allergy Clin. Immunol."},{"key":"2025111809543826300_bib31","doi-asserted-by":"publisher","first-page":"1120","DOI":"10.1016\/j.jaci.2021.07.039","article-title":"Hematopoietic stem cell transplantation in a patient with proteasome-associated autoinflammatory syndrome (PRAAS)","volume":"149","author":"Verhoeven","year":"2022","journal-title":"J. Allergy Clin. Immunol."},{"issue":"1\u20132","key":"2025111809543826300_bib32","doi-asserted-by":"publisher","first-page":"111","DOI":"10.1016\/s0022-1759(01)00477-x","article-title":"Generation of high quantities of viral and tumor-specific human CD4+ and CD8+ T-cell clones using peptide pulsed mature dendritic cells.","volume":"258","author":"Fonteneau","year":"2001","journal-title":"J. Immunol. Methods"},{"key":"2025111809543826300_bib7","doi-asserted-by":"publisher","first-page":"2333","DOI":"10.1038\/ncomms3333","article-title":"IMGT\/HighV QUEST paradigm for T cell receptor IMGT clonotype diversity and next generation repertoire immunoprofiling","volume":"4","author":"Li","year":"2013","journal-title":"Nat. Commun."},{"key":"2025111809543826300_bib8","doi-asserted-by":"publisher","DOI":"10.18637\/jss.v025.i01","article-title":"FactoMineR: An R package for multivariate analysis","volume":"25","author":"L\u00ea","year":"2008","journal-title":"J. Stat. Soft."}],"container-title":["Journal of Human Immunity"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/rupress.org\/jhi\/article-pdf\/doi\/10.70962\/jhi.20250096\/1953509\/jhi_20250096.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/rupress.org\/jhi\/article-pdf\/doi\/10.70962\/jhi.20250096\/1953509\/jhi_20250096.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,11,18]],"date-time":"2025-11-18T14:54:45Z","timestamp":1763477685000},"score":1,"resource":{"primary":{"URL":"https:\/\/rupress.org\/jhi\/article\/2\/1\/e20250096\/278475\/Novel-de-novo-dominant-PSMB10-variants-in-three"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,11,18]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,5]]}},"URL":"https:\/\/doi.org\/10.70962\/jhi.20250096","relation":{},"ISSN":["3065-8993"],"issn-type":[{"value":"3065-8993","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,11,18]]},"article-number":"e20250096"}}