{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T04:12:22Z","timestamp":1777349542905,"version":"3.51.4"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T00:00:00Z","timestamp":1663718400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2022,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>B\u2010cell expansion with NF\u2010\u03baB (nuclear factor\u2010kappa B) and T\u2010cell anergy (BENTA) is a rare congenital lymphoproliferative disorder caused by germline gain\u2010of\u2010function mutations in the <jats:italic>CARD11<\/jats:italic> gene. We herein report a familial case of BENTA due to a G123D heterozygous missense mutation in <jats:italic>CARD11<\/jats:italic> inherited by a male from his mother. The mother's clinical course was characterized by polyarthritis and encephalitis in young adulthood, suggesting that autoimmune\u2010like manifestations can occur in BENTA. The B\u2010cell lymphocytosis and splenomegaly seen in her child have been managed with prednisolone and tacrolimus. Further investigations are needed to evaluate the efficacy of calcineurin inhibitors for BENTA.<\/jats:p>","DOI":"10.1002\/pbc.29941","type":"journal-article","created":{"date-parts":[[2022,9,21]],"date-time":"2022-09-21T12:37:52Z","timestamp":1663763872000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A familial case of B\u2010cell expansion with NF\u2010\u03baB and T\u2010cell anergy caused by a G123D heterozygous missense mutation in the <i>CARD11<\/i> gene"],"prefix":"10.1002","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2912-1335","authenticated-orcid":false,"given":"Yusuke","family":"Takase","sequence":"first","affiliation":[{"name":"Department of Pediatrics Graduate School of Biomedical Sciences Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Tanioka","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Biomedical Sciences Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masataka","family":"Ishimura","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medical Sciences Kyushu University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Koh\u2010ichiro","family":"Yoshiura","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Graduate School of Biomedical Sciences Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuo","family":"Mori","sequence":"additional","affiliation":[{"name":"Department of Medicine and Biosystemic Science Graduate School of Medical Sciences Kyushu University  Fukuoka Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emiko","family":"Sakaida","sequence":"additional","affiliation":[{"name":"Department of Endocrinology Hematology and Gerontology Graduate School of Medicine Chiba University  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasutomo","family":"Funakoshi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Biomedical Sciences Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroyuki","family":"Moriuchi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Biomedical Sciences Nagasaki University  Nagasaki Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,9,21]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02078"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41577-018-0087-2"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2003.07.003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-014-0106-4"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20120831"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2015.03.008"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clim.2016.02.002"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2016-12-756007"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.01049"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.3389\/fimmu.2018.02944"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-019-00729-x"},{"key":"e_1_2_7_13_1","first-page":"406","article-title":"The first case of BENTA disease (B cell expansion with NF\u2010\u03baB and T cell anergy) from Iran","volume":"40","author":"Neishabury M","year":"2021","journal-title":"J Clin Immunol"},{"key":"e_1_2_7_14_1","first-page":"811","article-title":"Identification and characterization of a germline mutation in CARD11 from a Chinese case of B cell expansion with NF\u2010\u03baB and T cell anergy","volume":"41","author":"Zhao P","year":"2021","journal-title":"Front Immunol"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-021-01114-3"},{"key":"e_1_2_7_16_1","first-page":"1943","article-title":"Intrinsic plasma cell differentiation defects in B cell expansion with NF\u2010\u03baB and T cell anergy patient B cells","volume":"41","author":"Arjunaraja S","year":"2017","journal-title":"Front Immunol"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1153629"},{"key":"e_1_2_7_18_1","first-page":"1676","article-title":"Gain\u2010of\u2010function mutations in CARD11 promote enhanced aggregation and idiosyncratic signalosome assembly","volume":"319","author":"Stinson JR","year":"2020","journal-title":"Cell Immunol"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2020.01.029"},{"key":"e_1_2_7_20_1","first-page":"878","article-title":"Activated CARD11 accelerates germinal center kinetics, promoting mTORC1 and terminal differentiation","volume":"180","author":"Wray\u2010Dutra MN","year":"2018","journal-title":"J Exp Med"},{"key":"e_1_2_7_21_1","first-page":"2445","article-title":"Targeting chronic NFAT activation with calcineurin inhibitors in diffuse large B\u2010cell lymphoma","volume":"215","author":"Bucher P","year":"2020","journal-title":"Blood"}],"container-title":["Pediatric Blood &amp; Cancer"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.29941","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/pbc.29941","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/pbc.29941","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,21]],"date-time":"2023-08-21T23:08:11Z","timestamp":1692659291000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/pbc.29941"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,21]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2022,12]]}},"alternative-id":["10.1002\/pbc.29941"],"URL":"https:\/\/doi.org\/10.1002\/pbc.29941","archive":["Portico"],"relation":{},"ISSN":["1545-5009","1545-5017"],"issn-type":[{"value":"1545-5009","type":"print"},{"value":"1545-5017","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,21]]},"assertion":[{"value":"2022-03-17","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-08-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-09-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e29941"}}