{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T02:55:45Z","timestamp":1790650545768,"version":"4.1.0"},"reference-count":110,"publisher":"Elsevier BV","issue":"5","license":[{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2019,5,1]],"date-time":"2019-05-01T00:00:00Z","timestamp":1556668800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100008154","name":"Canadian Allergy, Asthma and Immunology Foundation","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008154","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001804","name":"Canada Research Chairs","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001804","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005247","name":"University of British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005247","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000024","name":"Canadian Institutes of Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000024","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000233","name":"Genome British Columbia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000233","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000245","name":"Michael Smith Foundation for Health Research","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000245","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":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2019,5]]},"DOI":"10.1016\/j.jaci.2019.03.009","type":"journal-article","created":{"date-parts":[[2019,5,3]],"date-time":"2019-05-03T09:04:31Z","timestamp":1556874271000},"page":"1661-1673","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":69,"title":["Germline CBM-opathies: From immunodeficiency to atopy"],"prefix":"10.1016","volume":"143","author":[{"given":"Henry Y.","family":"Lu","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine M.","family":"Biggs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geraldine","family":"Blanchard-Rohner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shan-Yu","family":"Fung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mehul","family":"Sharma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stuart E.","family":"Turvey","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2019.03.009_bib1","doi-asserted-by":"crossref","first-page":"2078","DOI":"10.3389\/fimmu.2018.02078","article-title":"The CBM-opathies\u2014a 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":"10.1016\/j.jaci.2019.03.009_bib2","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1038\/s41577-018-0087-2","article-title":"CARD-BCL-10-MALT1 signalling in protective and pathological immunity","volume":"19","author":"Ruland","year":"2019","journal-title":"Nat Rev Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib3","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.3389\/fimmu.2018.01539","article-title":"BCL10\u2014bridging CARDs to immune activation","volume":"9","author":"Gehring","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib4","doi-asserted-by":"crossref","first-page":"1927","DOI":"10.3389\/fimmu.2018.01927","article-title":"Holding All the CARDs: how MALT1 controls CARMA\/CARD-dependent signaling","volume":"9","author":"Juilland","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib5","doi-asserted-by":"crossref","first-page":"1836","DOI":"10.3389\/fimmu.2018.01836","article-title":"Human CARD9: a critical molecule of fungal immune surveillance","volume":"9","author":"Drummond","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib6","doi-asserted-by":"crossref","first-page":"1887","DOI":"10.3389\/fimmu.2018.01887","article-title":"CARMA3 is a critical mediator of G protein-coupled receptor and receptor tyrosine kinase-driven solid tumor pathogenesis","volume":"9","author":"McAuley","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib7","doi-asserted-by":"crossref","first-page":"2105","DOI":"10.3389\/fimmu.2018.02105","article-title":"Mechanisms of regulated and dysregulated CARD11 signaling in adaptive immunity and disease","volume":"9","author":"Bedsaul","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib8","doi-asserted-by":"crossref","first-page":"2167","DOI":"10.3389\/fimmu.2018.02167","article-title":"CARD14\/CARMA2 signaling and its role in inflammatory skin disorders","volume":"9","author":"Zotti","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib9","doi-asserted-by":"crossref","first-page":"766","DOI":"10.1016\/j.molcel.2013.08.032","article-title":"Structural architecture of the CARMA1\/Bcl10\/MALT1 signalosome: nucleation-induced filamentous assembly","volume":"51","author":"Qiao","year":"2013","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2019.03.009_bib10","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1016\/j.immuni.2014.04.007","article-title":"Inflammatory T cell responses rely on amino acid transporter ASCT2 facilitation of glutamine uptake and mTORC1 kinase activation","volume":"40","author":"Nakaya","year":"2014","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2019.03.009_bib11","doi-asserted-by":"crossref","first-page":"ra55","DOI":"10.1126\/scisignal.2005169","article-title":"T cell receptor-dependent activation of mTOR signaling in T cells is mediated by Carma1 and MALT1, but not Bcl10","volume":"7","author":"Hamilton","year":"2014","journal-title":"Sci Signal"},{"key":"10.1016\/j.jaci.2019.03.009_bib12","doi-asserted-by":"crossref","first-page":"1410","DOI":"10.1002\/1097-0142(19831015)52:8<1410::AID-CNCR2820520813>3.0.CO;2-3","article-title":"Malignant lymphoma of mucosa-associated lymphoid tissue. A\u00a0distinctive type of B-cell lymphoma","volume":"52","author":"Isaacson","year":"1983","journal-title":"Cancer"},{"key":"10.1016\/j.jaci.2019.03.009_bib13","doi-asserted-by":"crossref","first-page":"644","DOI":"10.1038\/nrc1409","article-title":"MALT lymphoma: from morphology to molecules","volume":"4","author":"Isaacson","year":"2004","journal-title":"Nat Rev Cancer"},{"key":"10.1016\/j.jaci.2019.03.009_bib14","doi-asserted-by":"crossref","first-page":"1175","DOI":"10.1016\/0140-6736(91)92035-Z","article-title":"Helicobacter pylori-associated gastritis and primary B-cell gastric lymphoma","volume":"338","author":"Wotherspoon","year":"1991","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2019.03.009_bib15","doi-asserted-by":"crossref","first-page":"122","DOI":"10.1002\/(SICI)1096-9896(199602)178:2<122::AID-PATH486>3.0.CO;2-D","article-title":"Helicobacter pylori-specific tumour-infiltrating T cells provide contact dependent help for the growth of malignant B cells in low-grade gastric lymphoma of mucosa-associated lymphoid tissue","volume":"178","author":"Hussell","year":"1996","journal-title":"J Pathol"},{"key":"10.1016\/j.jaci.2019.03.009_bib16","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/0140-6736(93)91409-F","article-title":"Regression of primary low-grade B-cell gastric lymphoma of mucosa-associated lymphoid tissue type after eradication of Helicobacter pylori","volume":"342","author":"Wotherspoon","year":"1993","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2019.03.009_bib17","doi-asserted-by":"crossref","first-page":"3601","DOI":"10.1182\/blood.V93.11.3601","article-title":"The apoptosis inhibitor gene API2 and a novel 18q gene, MLT, are recurrently rearranged in the t(11;18)(q21;q21) associated with mucosa-associated lymphoid tissue lymphomas","volume":"93","author":"Dierlamm","year":"1999","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2019.03.009_bib18","doi-asserted-by":"crossref","first-page":"5785","DOI":"10.1038\/sj.onc.1203018","article-title":"A novel gene, MALT1 at 18q21, is involved in t(11;18) (q21;q21) found in low-grade B-cell lymphoma of mucosa-associated lymphoid tissue","volume":"18","author":"Akagi","year":"1999","journal-title":"Oncogene"},{"key":"10.1016\/j.jaci.2019.03.009_bib19","first-page":"6205","article-title":"Breakpoints of the t(11;18)(q21;q21) in mucosa-associated lymphoid tissue (MALT) lymphoma lie within or near the previously undescribed gene MALT1 in chromosome 18","volume":"59","author":"Morgan","year":"1999","journal-title":"Cancer Res"},{"key":"10.1016\/j.jaci.2019.03.009_bib20","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/S0092-8674(00)80957-5","article-title":"Bcl10 is involved in t(1;14)(p22;q32) of MALT B cell lymphoma and mutated in multiple tumor types","volume":"96","author":"Willis","year":"1999","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2019.03.009_bib21","doi-asserted-by":"crossref","first-page":"63","DOI":"10.1038\/8767","article-title":"Inactivating mutations and overexpression of BCL10, a caspase recruitment domain-containing gene, in MALT lymphoma with t(1;14)(p22;q32)","volume":"22","author":"Zhang","year":"1999","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib22","first-page":"961","article-title":"Identification of paracaspases and metacaspases: two ancient families of caspase-like proteins, one of which plays a key role in MALT lymphoma","volume":"6","author":"Uren","year":"2000","journal-title":"Mol Cell"},{"key":"10.1016\/j.jaci.2019.03.009_bib23","doi-asserted-by":"crossref","first-page":"19012","DOI":"10.1074\/jbc.M009984200","article-title":"Bcl10 and MALT1, independent targets of chromosomal translocation in malt lymphoma, cooperate in a novel NF-kappa B signaling pathway","volume":"276","author":"Lucas","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2019.03.009_bib24","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1242\/jcs.00904","article-title":"NF-kappaB signaling in lymphocytes: a new cast of characters","volume":"117","author":"Lucas","year":"2004","journal-title":"J Cell Sci"},{"key":"10.1016\/j.jaci.2019.03.009_bib25","doi-asserted-by":"crossref","first-page":"41082","DOI":"10.1074\/jbc.C000726200","article-title":"CARD9 is a novel caspase recruitment domain-containing protein that interacts with BCL10\/CLAP and activates NF-kappa B","volume":"275","author":"Bertin","year":"2000","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2019.03.009_bib26","doi-asserted-by":"crossref","first-page":"21405","DOI":"10.1074\/jbc.M102488200","article-title":"Card10 is a novel caspase recruitment domain\/membrane-associated guanylate kinase family member that interacts with BCL10 and activates NF-kappa B","volume":"276","author":"Wang","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2019.03.009_bib27","doi-asserted-by":"crossref","first-page":"11877","DOI":"10.1074\/jbc.M010512200","article-title":"CARD11 and CARD14 are novel caspase recruitment domain (CARD)\/membrane-associated guanylate kinase (MAGUK) family members that interact with BCL10 and activate NF-kappa B","volume":"276","author":"Bertin","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2019.03.009_bib28","doi-asserted-by":"crossref","first-page":"121","DOI":"10.1016\/S0014-5793(01)02414-0","article-title":"Carma1, a CARD-containing binding partner of Bcl10, induces Bcl10 phosphorylation and NF-kappaB activation","volume":"496","author":"Gaide","year":"2001","journal-title":"FEBS Lett"},{"key":"10.1016\/j.jaci.2019.03.009_bib29","doi-asserted-by":"crossref","first-page":"30589","DOI":"10.1074\/jbc.M103824200","article-title":"Bimp1, a MAGUK family member linking protein kinase C activation to Bcl10-mediated NF-kappaB induction","volume":"276","author":"McAllister-Lucas","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1016\/j.jaci.2019.03.009_bib30","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/nature04926","article-title":"Card9 controls a non-TLR signalling pathway for innate anti-fungal immunity","volume":"442","author":"Gross","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.jaci.2019.03.009_bib31","doi-asserted-by":"crossref","first-page":"984","DOI":"10.1101\/gad.1502507","article-title":"CARMA3 deficiency abrogates G protein-coupled receptor-induced NF-{kappa}B activation","volume":"21","author":"Grabiner","year":"2007","journal-title":"Genes Dev"},{"key":"10.1016\/j.jaci.2019.03.009_bib32","doi-asserted-by":"crossref","first-page":"763","DOI":"10.1016\/S1074-7613(03)00148-1","article-title":"The MAGUK family protein CARD11 is essential for lymphocyte activation","volume":"18","author":"Hara","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2019.03.009_bib33","doi-asserted-by":"crossref","first-page":"1252","DOI":"10.1016\/S0960-9822(03)00491-3","article-title":"Requirement for CARMA1 in antigen receptor-induced NF-kappa B activation and lymphocyte proliferation","volume":"13","author":"Egawa","year":"2003","journal-title":"Curr Biol"},{"key":"10.1016\/j.jaci.2019.03.009_bib34","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1016\/j.immuni.2018.05.012","article-title":"Gain-of-function mutation of Card14 leads to spontaneous psoriasis-like skin inflammation through enhanced keratinocyte response to IL-17A","volume":"49","author":"Wang","year":"2018","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2019.03.009_bib35","doi-asserted-by":"crossref","first-page":"71","DOI":"10.4049\/jimmunol.1700995","article-title":"Essential role of CARD14 in murine experimental psoriasis","volume":"200","author":"Tanaka","year":"2018","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib36","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S0092-8674(01)00189-1","article-title":"Bcl10 is a positive regulator of antigen receptor-induced activation of NF-kappaB and neural tube closure","volume":"104","author":"Ruland","year":"2001","journal-title":"Cell"},{"key":"10.1016\/j.jaci.2019.03.009_bib37","doi-asserted-by":"crossref","first-page":"1581","DOI":"10.1126\/science.1090769","article-title":"Regulation of NF-kappaB-dependent lymphocyte activation and development by paracaspase","volume":"302","author":"Ruefli-Brasse","year":"2003","journal-title":"Science"},{"key":"10.1016\/j.jaci.2019.03.009_bib38","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1016\/S1074-7613(03)00293-0","article-title":"Differential requirement for Malt1 in T and B cell antigen receptor signaling","volume":"19","author":"Ruland","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2019.03.009_bib39","doi-asserted-by":"crossref","first-page":"1727","DOI":"10.1056\/NEJMoa0810719","article-title":"A homozygous CARD9 mutation in a family with susceptibility to fungal infections","volume":"361","author":"Glocker","year":"2009","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2019.03.009_bib40","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1016\/j.jaci.2012.11.050","article-title":"Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects","volume":"131","author":"Stepensky","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib41","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1016\/j.jaci.2013.02.012","article-title":"Whole-exome sequencing links caspase recruitment domain 11 (CARD11) inactivation to severe combined immunodeficiency","volume":"131","author":"Greil","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib42","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib43","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib44","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1016\/j.jaci.2018.09.002","article-title":"Loss-of-function mutations in caspase recruitment domain-containing protein 14 (CARD14) are associated with a severe variant of atopic dermatitis","volume":"143","author":"Peled","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib45","doi-asserted-by":"crossref","first-page":"796","DOI":"10.1016\/j.ajhg.2012.03.013","article-title":"Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis","volume":"90","author":"Jordan","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib46","doi-asserted-by":"crossref","first-page":"784","DOI":"10.1016\/j.ajhg.2012.03.012","article-title":"PSORS2 is due to mutations in CARD14","volume":"90","author":"Jordan","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib47","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1016\/j.ajhg.2012.05.010","article-title":"Familial pityriasis rubra pilaris is caused by mutations in CARD14","volume":"91","author":"Fuchs-Telem","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib48","doi-asserted-by":"crossref","first-page":"5239","DOI":"10.1172\/JCI77493","article-title":"Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity","volume":"124","author":"Torres","year":"2014","journal-title":"J Clin Invest"},{"key":"10.1016\/j.jaci.2019.03.009_bib49","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1016\/j.jaci.2013.04.047","article-title":"A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency","volume":"132","author":"Jabara","year":"2013","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib50","doi-asserted-by":"crossref","first-page":"1658","DOI":"10.1182\/blood-2015-03-631374","article-title":"Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency","volume":"126","author":"Fuchs","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2019.03.009_bib51","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1111\/pai.12930","article-title":"The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant","volume":"29","author":"Lu","year":"2018","journal-title":"Pediatr Allergy Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib52","doi-asserted-by":"crossref","first-page":"1482","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","volume":"143","author":"Dorjbal","year":"2019","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib53","doi-asserted-by":"crossref","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":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib54","doi-asserted-by":"crossref","first-page":"1162","DOI":"10.1038\/ng.3925","article-title":"Monogenic immune disorders and severe atopic disease","volume":"49","author":"Biggs","year":"2017","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib55","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S1074-7613(03)00141-9","article-title":"Identifying the MAGUK protein Carma-1 as a central regulator of humoral immune responses and atopy by genome-wide mouse mutagenesis","volume":"18","author":"Jun","year":"2003","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2019.03.009_bib56","doi-asserted-by":"crossref","first-page":"1222","DOI":"10.1038\/ng.2438","article-title":"Genome-wide association study identifies eight new susceptibility loci for atopic dermatitis in the Japanese population","volume":"44","author":"Hirota","year":"2012","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib57","doi-asserted-by":"crossref","first-page":"2944","DOI":"10.3389\/fimmu.2018.02944","article-title":"A unique heterozygous CARD11 mutation combines pathogenic features of both gain- and loss-of-function patients in a four-generation family","volume":"9","author":"Desjardins","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib58","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1016\/j.clim.2017.06.003","article-title":"DOCK8 deficiency: insights into pathophysiology, clinical features and management","volume":"181","author":"Biggs","year":"2017","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib59","doi-asserted-by":"crossref","first-page":"277","DOI":"10.1016\/j.iac.2008.01.005","article-title":"The hyper-IgE syndromes","volume":"28","author":"Freeman","year":"2008","journal-title":"Immunol Allergy Clin North Am"},{"key":"10.1016\/j.jaci.2019.03.009_bib60","doi-asserted-by":"crossref","first-page":"1907","DOI":"10.1084\/jem.20112744","article-title":"Human lymphoma mutations reveal CARD11 as the switch between self-antigen-induced B cell death or proliferation and autoantibody production","volume":"209","author":"Jeelall","year":"2012","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2019.03.009_bib61","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib62","doi-asserted-by":"crossref","first-page":"2354","DOI":"10.1016\/j.ajpath.2015.05.018","article-title":"Novel CARD11 mutations in human cutaneous squamous cell carcinoma lead to aberrant NF-\u03baB regulation","volume":"185","author":"Watt","year":"2015","journal-title":"Am J Pathol"},{"key":"10.1016\/j.jaci.2019.03.009_bib63","doi-asserted-by":"crossref","first-page":"595","DOI":"10.3324\/haematol.2011.054080","article-title":"BCR and TLR signaling pathways are recurrently targeted by genetic changes in splenic marginal zone lymphomas","volume":"97","author":"Yan","year":"2012","journal-title":"Haematologica"},{"key":"10.1016\/j.jaci.2019.03.009_bib64","doi-asserted-by":"crossref","first-page":"38180","DOI":"10.18632\/oncotarget.9500","article-title":"Genetic heterogeneity in primary and relapsed mantle cell lymphomas: impact of recurrent CARD11 mutations","volume":"7","author":"Wu","year":"2016","journal-title":"Oncotarget"},{"key":"10.1016\/j.jaci.2019.03.009_bib65","doi-asserted-by":"crossref","first-page":"1465","DOI":"10.1038\/ng.3442","article-title":"The mutational landscape of cutaneous T cell lymphoma and S\u00e9zary syndrome","volume":"47","author":"da Silva Almeida","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib66","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.jaci.2015.03.008","article-title":"Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation","volume":"136","author":"Buchbinder","year":"2015","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib67","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib68","doi-asserted-by":"crossref","first-page":"1049","DOI":"10.3389\/fimmu.2018.01049","article-title":"Clinical, immunological, and molecular findings in four cases of B cell expansion with NF-\u03baB and T cell anergy disease for the first time from India","volume":"9","author":"Gupta","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib69","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/j.clim.2016.02.002","article-title":"Constant B cell lymphocytosis since early age in a patient with CARD11 mutation: a 20-year follow-up","volume":"165","author":"Outinen","year":"2016","journal-title":"Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib70","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1056\/NEJM197102252840807","article-title":"Congenital lymphoid hyperplasia with persistent hyperlymphocytosis","volume":"284","author":"Darte","year":"1971","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2019.03.009_bib71","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib72","doi-asserted-by":"crossref","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":"10.1016\/j.jaci.2019.03.009_bib73","doi-asserted-by":"crossref","first-page":"198","DOI":"10.3389\/fimmu.2018.00198","article-title":"Impaired control of Epstein-Barr 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":"10.1016\/j.jaci.2019.03.009_bib74","doi-asserted-by":"crossref","first-page":"5835","DOI":"10.1182\/blood-2010-11-316745","article-title":"Characterization and treatment of chronic active Epstein-Barr virus disease: a 28-year experience in the United States","volume":"117","author":"Cohen","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2019.03.009_bib75","doi-asserted-by":"crossref","first-page":"913","DOI":"10.3389\/fimmu.2017.00913","article-title":"Intrinsic plasma cell differentiation defects in B cell expansion with NF-\u03baB and T cell anergy patient B cells","volume":"8","author":"Arjunaraja","year":"2017","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib76","doi-asserted-by":"crossref","first-page":"D777","DOI":"10.1093\/nar\/gkw1121","article-title":"COSMIC: somatic cancer genetics at high-resolution","volume":"45","author":"Forbes","year":"2017","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.jaci.2019.03.009_bib77","doi-asserted-by":"crossref","first-page":"11889","DOI":"10.1038\/s41598-017-12349-9","article-title":"Mucosa-associated lymphoid tissue lymphoma translocation 1 as a novel therapeutic target for rheumatoid arthritis","volume":"7","author":"Lee","year":"2017","journal-title":"Sci Rep"},{"key":"10.1016\/j.jaci.2019.03.009_bib78","doi-asserted-by":"crossref","first-page":"7038","DOI":"10.1158\/0008-5472.CAN-17-2485","article-title":"MALT1 inhibition is efficacious in both naive and ibrutinib-resistant chronic lymphocytic leukemia","volume":"77","author":"Saba","year":"2017","journal-title":"Cancer Res"},{"key":"10.1016\/j.jaci.2019.03.009_bib79","doi-asserted-by":"crossref","first-page":"656","DOI":"10.1007\/s10875-018-0539-2","article-title":"Inherited CARD9 deficiency: invasive disease caused by ascomycete fungi in previously healthy children and adults","volume":"38","author":"Corvilain","year":"2018","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib80","doi-asserted-by":"crossref","first-page":"2434","DOI":"10.3389\/fmicb.2018.02434","article-title":"Frequency and geographic distribution of CARD9 mutations in patients with severe fungal infections","volume":"9","author":"Vaezi","year":"2018","journal-title":"Front Microbiol"},{"key":"10.1016\/j.jaci.2019.03.009_bib81","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.3389\/fimmu.2018.02366","article-title":"A CARD9 founder mutation disrupts NF-kappaB signaling by inhibiting BCL10 and MALT1 recruitment and signalosome formation","volume":"9","author":"De Bruyne","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib82","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1097\/MOP.0000000000000031","article-title":"Primary immunodeficiencies underlying fungal infections","volume":"25","author":"Lanternier","year":"2013","journal-title":"Curr Opin Pediatr"},{"key":"10.1016\/j.jaci.2019.03.009_bib83","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1093\/cid\/ciu215","article-title":"CARD9 deficiency and spontaneous central nervous system candidiasis: complete clinical remission with GM-CSF therapy","volume":"59","author":"Gavino","year":"2014","journal-title":"Clin Infect Dis"},{"key":"10.1016\/j.jaci.2019.03.009_bib84","doi-asserted-by":"crossref","first-page":"1334","DOI":"10.1016\/j.jaci.2018.05.025","article-title":"GM-CSF therapy in human caspase recruitment domain-containing protein 9 deficiency","volume":"142","author":"Drummond","year":"2018","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib85","doi-asserted-by":"crossref","first-page":"e89890","DOI":"10.1172\/jci.insight.89890","article-title":"Extrapulmonary Aspergillus infection in patients with CARD9 deficiency","volume":"1","author":"Rieber","year":"2016","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2019.03.009_bib86","doi-asserted-by":"crossref","first-page":"1009","DOI":"10.1084\/jem.20172306","article-title":"Primary atopic disorders","volume":"215","author":"Lyons","year":"2018","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2019.03.009_bib87","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1016\/j.jaad.2013.10.010","article-title":"Guidelines of care for the management of atopic dermatitis: section 1. Diagnosis and assessment of atopic dermatitis","volume":"70","author":"Eichenfield","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib88","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1016\/j.jaad.2014.03.023","article-title":"Guidelines of care for the management of atopic dermatitis: section 2. Management and treatment of atopic dermatitis with topical therapies","volume":"71","author":"Eichenfield","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib89","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1016\/j.jaad.2014.03.030","article-title":"Guidelines of care for the management of atopic dermatitis: section 3. Management and treatment with phototherapy and systemic agents","volume":"71","author":"Sidbury","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib90","doi-asserted-by":"crossref","first-page":"1218","DOI":"10.1016\/j.jaad.2014.08.038","article-title":"Guidelines of care for the management of atopic dermatitis: section 4. Prevention of disease flares and use of adjunctive therapies and approaches","volume":"71","author":"Sidbury","year":"2014","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib91","doi-asserted-by":"crossref","first-page":"2239","DOI":"10.3389\/fimmu.2018.02239","article-title":"Clinical and genetic heterogeneity of CARD14 mutations in psoriatic skin disease","volume":"9","author":"Israel","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib92","doi-asserted-by":"crossref","first-page":"430","DOI":"10.1086\/377159","article-title":"The International Psoriasis Genetics Study: assessing linkage to 14 candidate susceptibility loci in a cohort of 942 affected sib pairs","volume":"73","year":"2003","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2019.03.009_bib93","doi-asserted-by":"crossref","first-page":"1759","DOI":"10.1042\/BCJ20160270","article-title":"Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation","volume":"473","author":"Howes","year":"2016","journal-title":"Biochem J"},{"key":"10.1016\/j.jaci.2019.03.009_bib94","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/S0140-6736(07)61128-3","article-title":"Pathogenesis and clinical features of psoriasis","volume":"370","author":"Griffiths","year":"2007","journal-title":"Lancet"},{"key":"10.1016\/j.jaci.2019.03.009_bib95","doi-asserted-by":"crossref","first-page":"614","DOI":"10.1111\/bjd.16232","article-title":"Pustular psoriasis and related pustular skin diseases","volume":"178","author":"Bachelez","year":"2018","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib96","doi-asserted-by":"crossref","first-page":"377","DOI":"10.1007\/s40257-017-0338-1","article-title":"A review on pityriasis rubra pilaris","volume":"19","author":"Wang","year":"2018","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib97","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.jaad.2018.02.034","article-title":"CARD14-associated papulosquamous eruption: a spectrum including features of psoriasis and pityriasis rubra pilaris","volume":"79","author":"Craiglow","year":"2018","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib98","first-page":"278","article-title":"Diagnosis and management of psoriasis","volume":"63","author":"Kim","year":"2017","journal-title":"Can Fam Physician"},{"key":"10.1016\/j.jaci.2019.03.009_bib99","doi-asserted-by":"crossref","first-page":"451","DOI":"10.2147\/CCID.S124351","article-title":"Management of refractory pityriasis rubra pilaris: challenges and solutions","volume":"10","author":"Moretta","year":"2017","journal-title":"Clin Cosmet Investig Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib100","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1001\/jamadermatol.2016.3601","article-title":"Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations","volume":"153","author":"Takeichi","year":"2017","journal-title":"JAMA Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib101","doi-asserted-by":"crossref","first-page":"969","DOI":"10.1111\/bjd.15462","article-title":"Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14","volume":"178","author":"Lwin","year":"2018","journal-title":"Br J Dermatol"},{"key":"10.1016\/j.jaci.2019.03.009_bib102","doi-asserted-by":"crossref","first-page":"914","DOI":"10.15252\/embr.201642109","article-title":"The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes","volume":"17","author":"Afonina","year":"2016","journal-title":"EMBO Rep"},{"key":"10.1016\/j.jaci.2019.03.009_bib103","doi-asserted-by":"crossref","first-page":"1458","DOI":"10.1016\/j.jaci.2013.10.045","article-title":"Combined immunodeficiency associated with homozygous MALT1 mutations","volume":"133","author":"McKinnon","year":"2014","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib104","doi-asserted-by":"crossref","first-page":"135","DOI":"10.1007\/s10875-014-0125-1","article-title":"Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation","volume":"35","author":"Punwani","year":"2015","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib105","doi-asserted-by":"crossref","first-page":"378","DOI":"10.1097\/MPG.0000000000001262","article-title":"Deficiency in mucosa-associated lymphoid tissue lymphoma translocation 1: a\u00a0novel cause of IPEX-like syndrome","volume":"64","author":"Charbit-Henrion","year":"2017","journal-title":"J Pediatr Gastroenterol Nutr"},{"key":"10.1016\/j.jaci.2019.03.009_bib106","doi-asserted-by":"crossref","first-page":"8777","DOI":"10.1038\/ncomms9777","article-title":"The paracaspase MALT1 cleaves HOIL1 reducing linear ubiquitination by LUBAC to dampen lymphocyte NF-kappaB signalling","volume":"6","author":"Klein","year":"2015","journal-title":"Nat Commun"},{"key":"10.1016\/j.jaci.2019.03.009_bib107","doi-asserted-by":"crossref","first-page":"1292","DOI":"10.1016\/j.celrep.2014.10.044","article-title":"Uncoupling Malt1 threshold function from paracaspase activity results in destructive autoimmune inflammation","volume":"9","author":"Gewies","year":"2014","journal-title":"Cell Rep"},{"key":"10.1016\/j.jaci.2019.03.009_bib108","doi-asserted-by":"crossref","first-page":"2765","DOI":"10.15252\/embj.201488987","article-title":"Malt1 protease inactivation efficiently dampens immune responses but causes spontaneous autoimmunity","volume":"33","author":"Jaworski","year":"2014","journal-title":"EMBO J"},{"key":"10.1016\/j.jaci.2019.03.009_bib109","doi-asserted-by":"crossref","first-page":"3723","DOI":"10.4049\/jimmunol.1402254","article-title":"Deficiency of MALT1 paracaspase activity results in unbalanced regulatory and effector T and B cell responses leading to multiorgan inflammation","volume":"194","author":"Bornancin","year":"2015","journal-title":"J Immunol"},{"key":"10.1016\/j.jaci.2019.03.009_bib110","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.clim.2016.04.011","article-title":"Successful clinical treatment and functional immunological normalization of human MALT1 deficiency following hematopoietic stem cell transplantation","volume":"168","author":"Rozmus","year":"2016","journal-title":"Clin Immunol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674919304075?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674919304075?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,25]],"date-time":"2025-09-25T09:16:46Z","timestamp":1758791806000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674919304075"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,5]]},"references-count":110,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2019,5]]}},"alternative-id":["S0091674919304075"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2019.03.009","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2019,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Germline CBM-opathies: From immunodeficiency to atopy","name":"articletitle","label":"Article Title"},{"value":"Journal of Allergy and Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaci.2019.03.009","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}