{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,24]],"date-time":"2025-11-24T21:46:51Z","timestamp":1764020811083,"version":"3.41.2"},"reference-count":48,"publisher":"Oxford University Press (OUP)","issue":"1","license":[{"start":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T00:00:00Z","timestamp":1728950400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["32330033","32270932"],"award-info":[{"award-number":["32330033","32270932"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"Shanghai Municipal Science and Technology Major Project","award":["ZD2021CY001"],"award-info":[{"award-number":["ZD2021CY001"]}]},{"name":"National Natural Science Foundation for Young Scholar","award":["82202013"],"award-info":[{"award-number":["82202013"]}]},{"DOI":"10.13039\/501100002858","name":"China Postdoctoral Science Foundation Grant","doi-asserted-by":"crossref","award":["2022M720782"],"award-info":[{"award-number":["2022M720782"]}],"id":[{"id":"10.13039\/501100002858","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,1,21]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Mutations in the human nuclear factor-\u03baB2 gene (NFKB2) are associated with common variable immunodeficiency (CVID) or combined immunodeficiency diseases (CID), characterized by B-cell lymphopenia, hypogammaglobulinemia, and T-cell dysfunction. This study investigated whether B cells with NFKB2 mutations exhibit intrinsic impairments in activation, class-switch recombination, and differentiation. We analyzed five patients from four unrelated families with CVID, each carrying a heterozygous NFKB2 mutation: P1 (C.2595_2614del, p.A867Gfs*12), P2 (C.2597G\u2005&amp;gt;\u2005A, p.S866N), P3 (C.2540dupT, p.R848Efs*38), and P4 and P5 (C.2570_2571insCAGCACA, p.A860Qfs*28). The patients with frameshift mutations (P1, P3, P4, and P5) exhibited truncated proteins detectable in their peripheral blood mononuclear cells, while P2 had a missense mutation. All identified mutations disrupted the processing of p100 into the active p52 form, resulting in NF-\u03baB2 loss of function and I\u03baB\u03b4 gain of function. Clinically, P1, P2, and P3 exhibited B-cell lymphopenia, and all five patients presented with hypogammaglobulinemia. Notably, P2 exhibited a markedly low B-cell count, associated with increased proportions of memory B and IgD\u2212CD27\u2212 double-negative B cells. In vitro experiments with na\u00efve B cells from P1 and P4 demonstrated decreased survival, impaired activation, and reduced differentiation into CD27+IgD\u2212 cells and plasmablasts, while class-switch recombination was unaffected. These findings reveal novel B-cell intrinsic functional defects in patients with NFKB2 mutations.<\/jats:p>","DOI":"10.1093\/cei\/uxae090","type":"journal-article","created":{"date-parts":[[2024,10,15]],"date-time":"2024-10-15T16:46:29Z","timestamp":1729010789000},"source":"Crossref","is-referenced-by-count":1,"title":["Intrinsic functional defects in B cells of patients with <i>NFKB2<\/i> mutations"],"prefix":"10.1093","volume":"219","author":[{"given":"Qing","family":"Min","sequence":"first","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]},{"name":"Shanghai Sci-Tech Inno Center for Infection & Immunity , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yaxuan","family":"Li","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xuzhe","family":"Wu","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meiping","family":"Yu","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjing","family":"Ying","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qinhua","family":"Zhou","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jia","family":"Hou","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bijun","family":"Sun","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoying","family":"Hui","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lulu","family":"Dong","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xin","family":"Meng","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hai","family":"Zhang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ziying","family":"Hu","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoqian","family":"Feng","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jinqiao","family":"Sun","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenjie","family":"Wang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaochuan","family":"Wang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai ,","place":["China"]},{"name":"Shanghai Institute of Infectious Disease and Biosecurity , Shanghai ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3038-3826","authenticated-orcid":false,"given":"Ji-Yang","family":"Wang","sequence":"additional","affiliation":[{"name":"School of Basic Medical Sciences, Fudan University Department of Immunology, , Shanghai ,","place":["China"]},{"name":"Shanghai Sci-Tech Inno Center for Infection & Immunity , Shanghai ,","place":["China"]},{"name":"Children\u2019s Hospital of Fudan University, National Children\u2019s Medical Center Department of Clinical Immunology, , Shanghai 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