{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T04:20:08Z","timestamp":1781929208823,"version":"3.54.5"},"reference-count":14,"publisher":"Elsevier BV","issue":"6","license":[{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,12,1]],"date-time":"2024-12-01T00:00:00Z","timestamp":1733011200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,12,4]],"date-time":"2025-12-04T00:00:00Z","timestamp":1764806400000},"content-version":"am","delay-in-days":368,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000069","name":"National Institute of Arthritis and Musculoskeletal and Skin Diseases","doi-asserted-by":"publisher","award":["Z01-AR041198"],"award-info":[{"award-number":["Z01-AR041198"]}],"id":[{"id":"10.13039\/100000069","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000060","name":"National Institute of Allergy and Infectious Diseases","doi-asserted-by":"publisher","award":["R24 AI 17745"],"award-info":[{"award-number":["R24 AI 17745"]}],"id":[{"id":"10.13039\/100000060","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","clinicalkey.es","clinicalkey.com","jacionline.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Journal of Allergy and Clinical Immunology"],"published-print":{"date-parts":[[2024,12]]},"DOI":"10.1016\/j.jaci.2024.08.016","type":"journal-article","created":{"date-parts":[[2024,8,27]],"date-time":"2024-08-27T02:36:01Z","timestamp":1724726161000},"page":"1554-1558","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"title":["PLCG2 variants in cherubism"],"prefix":"10.1016","volume":"154","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-2670-9511","authenticated-orcid":false,"given":"Jennifer G.","family":"Chester","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Carcamo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Gudis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Bustamante","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sidney B.","family":"Eisig","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael J.","family":"Ombrello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wendy K.","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joshua D.","family":"Milner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2024.08.016_bib1","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1016\/j.jaci.2023.08.036","article-title":"PLCG2-associated immune dysregulation (PLAID) comprises broad and distinct clinical presentations related to functional classes of genetic variants","volume":"153","author":"Baysac","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2024.08.016_bib2","doi-asserted-by":"crossref","first-page":"330","DOI":"10.1056\/NEJMoa1102140","article-title":"Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions","volume":"366","author":"Ombrello","year":"2012","journal-title":"N Engl J Med"},{"key":"10.1016\/j.jaci.2024.08.016_bib3","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.ajhg.2012.08.006","article-title":"A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency","volume":"91","author":"Zhou","year":"2012","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaci.2024.08.016_bib4","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1016\/j.jaci.2023.09.002","article-title":"Human PLCG2 haploinsufficiency results in a novel natural killer cell immunodeficiency","volume":"153","author":"Alinger","year":"2024","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2024.08.016_bib7","doi-asserted-by":"crossref","first-page":"1425","DOI":"10.1002\/jor.21164","article-title":"SH3BP2 mutations potentiate osteoclastogenesis via PLCgamma","volume":"28","author":"Lietman","year":"2010","journal-title":"J Orthop Res"},{"key":"10.1016\/j.jaci.2024.08.016_bib8","doi-asserted-by":"crossref","first-page":"951","DOI":"10.1111\/j.1365-2443.2011.01539.x","article-title":"Enhancement of B-cell receptor signaling by a point mutation of adaptor protein 3BP2 identified in human inherited disease cherubism","volume":"16","author":"Ogi","year":"2011","journal-title":"Genes Cells"},{"key":"10.1016\/j.jaci.2024.08.016_bib5","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1038\/88832","article-title":"Mutations in the gene encoding c-Abl\u2013binding protein SH3BP2 cause cherubism","volume":"28","author":"Ueki","year":"2001","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2024.08.016_bib6","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1007\/s002560050530","article-title":"Cherubism: clinicopathologic features","volume":"28","author":"Yamaguchi","year":"1999","journal-title":"Skeletal Radiol"},{"key":"10.1016\/j.jaci.2024.08.016_bib9","doi-asserted-by":"crossref","first-page":"54","DOI":"10.1016\/j.ijom.2021.04.001","article-title":"SH3BP2-related fibro-osseous disorders of the maxilla and mandible: a systematic review","volume":"51","author":"Kueper","year":"2022","journal-title":"Int J Oral Maxillofac Surg"},{"key":"10.1016\/j.jaci.2024.08.016_bib10","first-page":"213","article-title":"Familial cherubism: clinical and radiological features. Case report and review of the literature","volume":"19","author":"Sidorowicz","year":"2018","journal-title":"Eur J Paediatr Dent"},{"key":"10.1016\/j.jaci.2024.08.016_bib11","series-title":"GeneReviews. Seattle (Wash)","article-title":"Cherubism","author":"Kannu","year":"1993"},{"key":"10.1016\/j.jaci.2024.08.016_bib12","doi-asserted-by":"crossref","first-page":"34357","DOI":"10.18632\/oncotarget.26173","article-title":"Functional characterization of phospholipase C-gamma2 mutant protein causing both somatic ibrutinib resistance and a germline monogenic autoinflammatory disorder","volume":"9","author":"Walliser","year":"2018","journal-title":"Oncotarget"},{"key":"10.1016\/j.jaci.2024.08.016_bib13","doi-asserted-by":"crossref","first-page":"2863","DOI":"10.3389\/fimmu.2018.02863","article-title":"Novel PLCG2 mutation in a patient with APLAID and cutis laxa","volume":"9","author":"Neves","year":"2018","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2024.08.016_bib14","doi-asserted-by":"crossref","first-page":"2334","DOI":"10.1111\/jdv.15918","article-title":"Expanding the clinical features of autoinflammation and phospholipase Cgamma2-associated antibody deficiency and immune dysregulation by description of a novel patient","volume":"33","author":"Moran-Villasenor","year":"2019","journal-title":"J Eur Acad Dermatol Venereol"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674924008686?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674924008686?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,12,4]],"date-time":"2024-12-04T12:41:08Z","timestamp":1733316068000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674924008686"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,12]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2024,12]]}},"alternative-id":["S0091674924008686"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2024.08.016","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2024,12]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"PLCG2 variants in cherubism","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.2024.08.016","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}