{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,1]],"date-time":"2026-06-01T18:08:34Z","timestamp":1780337314714,"version":"3.54.1"},"reference-count":19,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2018,12,12]],"date-time":"2018-12-12T00:00:00Z","timestamp":1544572800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R21AI109187"],"award-info":[{"award-number":["R21AI109187"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006492","name":"Division of Intramural Research, National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006492","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008582","name":"McGill University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008582","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002722","name":"AllerGen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002722","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"DOI":"10.3389\/fimmu.2018.02944","type":"journal-article","created":{"date-parts":[[2018,12,12]],"date-time":"2018-12-12T15:21:25Z","timestamp":1544628085000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":32,"title":["A Unique Heterozygous CARD11 Mutation Combines Pathogenic Features of Both Gain- and Loss-of-Function Patients in a Four-Generation Family"],"prefix":"10.3389","volume":"9","author":[{"given":"Marylin","family":"Desjardins","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swadhinya","family":"Arjunaraja","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey R.","family":"Stinson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Batsukh","family":"Dorjbal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janani","family":"Sundaresan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie","family":"Niemela","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Raffeld","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen F.","family":"Matthews","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pamela","family":"Angelus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen C.","family":"Su","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruce D.","family":"Mazer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew L.","family":"Snow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2018,12,12]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"533","DOI":"10.1097\/ACI.0000000000000217","article-title":"Gain-of-function mutations and immunodeficiency: at a loss for proper tuning of lymphocyte signaling","volume":"15","author":"Arjunaraja","year":"2015","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.3389\/fimmu.2018.02078","article-title":"The CBM-opathies-a rapidly expanding spectrum of human inborn errors of immunity caused by mutations in the CARD11-BCL10-MALT1 complex","volume":"9","author":"Lu","year":"2018","journal-title":"Front Immunol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"1676","DOI":"10.1126\/science.1153629","article-title":"Oncogenic CARD11 mutations in human diffuse large B cell lymphoma","volume":"319","author":"Lenz","year":"2008","journal-title":"Science"},{"key":"B4","doi-asserted-by":"publisher","first-page":"2247","DOI":"10.1084\/jem.20120831","article-title":"Congenital B cell lymphocytosis explained by novel germline CARD11 mutations","volume":"209","author":"Snow","year":"2012","journal-title":"J Exp Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"276","DOI":"10.1016\/j.jaci.2014.06.015","article-title":"The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency","volume":"134","author":"Turvey","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"B6","doi-asserted-by":"publisher","first-page":"729","DOI":"10.1016\/j.immuni.2006.04.005","article-title":"Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation","volume":"24","author":"Sasaki","year":"2006","journal-title":"Immunity"},{"key":"B7","doi-asserted-by":"publisher","first-page":"1209","DOI":"10.4049\/jimmunol.1102429","article-title":"Chronic activation of the kinase IKKbeta impairs T cell function and survival","volume":"189","author":"Krishna","year":"2012","journal-title":"J Immunol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"913","DOI":"10.3389\/fimmu.2017.00913","article-title":"Intrinsic plasma cell differentiation defects in B cell expansion with NF-kappaB and T cell anergy patient B cells","volume":"8","author":"Arjunaraja","year":"2017","journal-title":"Front Immunol"},{"key":"B9","doi-asserted-by":"publisher","first-page":"198","DOI":"10.3389\/fimmu.2018.00198","article-title":"Impaired control of epstein\u2013barr virus infection in B-cell expansion with NF-\u03baB and T-cell anergy disease","volume":"9","author":"Arjunaraja","year":"2018","journal-title":"Front Immunol"},{"key":"B10","doi-asserted-by":"publisher","first-page":"1818","DOI":"10.1016\/j.jaci.2017.06.047","article-title":"Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)","volume":"141","author":"Dadi","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"B11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2018.08.013","article-title":"Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease","author":"Dorjbal","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"1192","DOI":"10.1038\/ng.3898","article-title":"Germline hypomorphic CARD11 mutations in severe atopic disease","volume":"49","author":"Ma","year":"2017","journal-title":"Nat Genet"},{"key":"B13","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1007\/s10875-014-0106-4","article-title":"Germline CARD11 mutation in a patient with severe congenital B cell lymphocytosis","volume":"35","author":"Brohl","year":"2015","journal-title":"J Clin Immunol"},{"key":"B14","doi-asserted-by":"publisher","first-page":"639","DOI":"10.1097\/ACI.0000000000000009","article-title":"B-cell memory and primary immune deficiencies: interleukin-21 related defects","volume":"13","author":"Desjardins","year":"2013","journal-title":"Curr Opin Allergy Clin Immunol"},{"key":"B15","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1007\/s10875-017-0452-0","article-title":"Modulation of the interleukin-21 pathway with interleukin-4 distinguishes common variable immunodeficiency patients with more non-infectious clinical complications","volume":"38","author":"Desjardins","year":"2018","journal-title":"J Clin Immunol"},{"key":"B16","doi-asserted-by":"publisher","first-page":"1767","DOI":"10.4049\/jimmunol.181.3.1767","article-title":"IL-21-induced isotype switching to IgG and IgA by human naive B cells is differentially regulated by IL-4","volume":"181","author":"Avery","year":"2008","journal-title":"J Immunol"},{"key":"B17","doi-asserted-by":"publisher","first-page":"8324","DOI":"10.1074\/jbc.M115.683714","article-title":"Cooperative control of caspase recruitment domain-containing protein 11 (CARD11) signaling by an unusual array of redundant repressive elements","volume":"291","author":"Jattani","year":"2016","journal-title":"J Biol Chem"},{"key":"B18","doi-asserted-by":"publisher","first-page":"8338","DOI":"10.1074\/jbc.M116.717322","article-title":"Intramolecular interactions and regulation of cofactor binding by the four repressive elements in the caspase recruitment domain-containing protein 11 (CARD11) inhibitory domain","volume":"291","author":"Jattani","year":"2016","journal-title":"J Biol Chem"},{"key":"B19","doi-asserted-by":"publisher","first-page":"17141","DOI":"10.1074\/jbc.M700169200","article-title":"CARMA1 coiled-coil domain is involved in the oligomerization and subcellular localization of CARMA1 and is required for T cell receptor-induced NF-kappaB activation","volume":"282","author":"Tanner","year":"2007","journal-title":"J Biol Chem"}],"container-title":["Frontiers in Immunology"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.02944\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,12,12]],"date-time":"2018-12-12T15:21:29Z","timestamp":1544628089000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/article\/10.3389\/fimmu.2018.02944\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,12,12]]},"references-count":19,"alternative-id":["10.3389\/fimmu.2018.02944"],"URL":"https:\/\/doi.org\/10.3389\/fimmu.2018.02944","relation":{},"ISSN":["1664-3224"],"issn-type":[{"value":"1664-3224","type":"electronic"}],"subject":[],"published":{"date-parts":[[2018,12,12]]},"article-number":"2944"}}