{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T03:50:03Z","timestamp":1782273003388,"version":"3.54.5"},"reference-count":30,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T00:00:00Z","timestamp":1630972800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100003819","name":"Natural Science Foundation of Hubei Province","doi-asserted-by":"publisher","award":["2017CFB322"],"award-info":[{"award-number":["2017CFB322"]}],"id":[{"id":"10.13039\/501100003819","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>B cell expansion with NF-\u03baB and T cell anergy (BENTA) is a rare primary immunodeficiency disorder caused by gain-of-function (GOF) mutations in the <jats:italic>CARD11<\/jats:italic> gene. Affected patients present with persistent B cell lymphocytosis in early childhood paired with lymphadenopathy and splenomegaly. Until now only six activating mutations from 14 patients have been reported in <jats:italic>CARD11<\/jats:italic>. Here we report a patient from China with polyclonal B cell lymphocytosis and frequent infections in early life. A heterozygous mutation (c.377G&amp;gt;A, G126D) in exon 5 of <jats:italic>CARD11<\/jats:italic> gene (NM_032415) was identified by whole exome sequencing. <jats:italic>In vitro<\/jats:italic> functional studies showed that the G126D mutation is associated with increased expression of CARD11 and NF-\u03baB activation in Hela cells. Flow cytometry analysis indicated NK cell activity and CD107a degranulation of the patient were decreased. RNA sequencing analysis showed that a number of genes in NF-\u03baB pathway increased while those involved in NK cell activity and degranulation were down-regulated. In summary, our work identified a <jats:italic>de novo<\/jats:italic> germline GOF mutation in <jats:italic>CARD11<\/jats:italic> with functional evidence of BENTA.<\/jats:p>","DOI":"10.3389\/fimmu.2021.676386","type":"journal-article","created":{"date-parts":[[2021,9,7]],"date-time":"2021-09-07T06:17:50Z","timestamp":1630995470000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":14,"title":["Identification and Characterization of a Germline Mutation in CARD11 From a Chinese Case of B Cell Expansion With NF-\u03baB and T Cell Anergy"],"prefix":"10.3389","volume":"12","author":[{"given":"Peiwei","family":"Zhao","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qingjie","family":"Meng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yufeng","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukun","family":"Luo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiankai","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Li","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aifen","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Xiong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuelian","family":"He","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2021,9,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/s1074-7613(03)00148-1","article-title":"The 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