{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T16:43:56Z","timestamp":1787244236351,"version":"build-2736575974"},"reference-count":22,"publisher":"Elsevier BV","issue":"7","license":[{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T00:00:00Z","timestamp":1625097600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100014547","name":"Parker Institute for Cancer Immunotherapy","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100014547","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["1K23DK100461-01A1"],"award-info":[{"award-number":["1K23DK100461-01A1"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5K12HD043245"],"award-info":[{"award-number":["5K12HD043245"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["5R01DK111843-02"],"award-info":[{"award-number":["5R01DK111843-02"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K08AI135091"],"award-info":[{"award-number":["K08AI135091"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23DK119585"],"award-info":[{"award-number":["K23DK119585"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000861","name":"Burroughs Wellcome Fund","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000861","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006458","name":"Children's Hospital of Philadelphia","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006458","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","jaci-inpractice.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Allergy and Clinical Immunology: In Practice"],"published-print":{"date-parts":[[2021,7]]},"DOI":"10.1016\/j.jaip.2021.04.010","type":"journal-article","created":{"date-parts":[[2021,4,21]],"date-time":"2021-04-21T15:49:18Z","timestamp":1619020158000},"page":"2885-2893.e3","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":10,"title":["Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation"],"prefix":"10.1016","volume":"9","author":[{"given":"Trusha","family":"Patel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah E.","family":"Henrickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily K.","family":"Moser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natania S.","family":"Field","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelly","family":"Maurer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Noor","family":"Dawany","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maire","family":"Conrad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nancy","family":"Bunin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason L.","family":"Freedman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer","family":"Heimall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danielle E.","family":"Arnold","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan E.","family":"Markowitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sarah Beth","family":"Payne-Poff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kelli W.","family":"Williams","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre A.","family":"Russo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E. John","family":"Wherry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Devoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Oliver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen E.","family":"Sullivan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith R.","family":"Kelsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaip.2021.04.010_bib1","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1016\/j.cell.2016.03.046","article-title":"Inflammasome complexes: emerging mechanisms and effector functions","volume":"165","author":"Rathinam","year":"2016","journal-title":"Cell"},{"key":"10.1016\/j.jaip.2021.04.010_bib2","doi-asserted-by":"crossref","first-page":"915","DOI":"10.1080\/09273948.2017.1299869","article-title":"Anakinra in the treatment of patients with refractory scleritis: a pilot study","volume":"26","author":"Bottin","year":"2018","journal-title":"Ocul Immunol Inflamm"},{"key":"10.1016\/j.jaip.2021.04.010_bib3","doi-asserted-by":"crossref","first-page":"883","DOI":"10.1038\/ni1106","article-title":"E3 ubiquitin ligases as T cell anergy factors","volume":"5","author":"Mueller","year":"2004","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib4","doi-asserted-by":"crossref","first-page":"472","DOI":"10.1038\/ni1193","article-title":"Egr-2 and Egr-3 are negative regulators of T cell activation","volume":"6","author":"Safford","year":"2005","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib5","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1016\/j.immuni.2004.07.013","article-title":"Essential role of the E3 ubiquitin ligase Cbl-b in T cell anergy induction","volume":"21","author":"Jeon","year":"2004","journal-title":"Immunity"},{"key":"10.1016\/j.jaip.2021.04.010_bib6","first-page":"185","article-title":"Itchy mice: the identification of a new pathway for the development of autoimmunity","volume":"321","author":"Matesic","year":"2008","journal-title":"Curr Top Microbiol Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib7","doi-asserted-by":"crossref","first-page":"447","DOI":"10.1016\/j.ajhg.2010.01.028","article-title":"Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease","volume":"86","author":"Lohr","year":"2010","journal-title":"Am J Hum Genet"},{"key":"10.1016\/j.jaip.2021.04.010_bib8","doi-asserted-by":"crossref","first-page":"e20181554","DOI":"10.1542\/peds.2018-1554","article-title":"Mutation in ITCH gene can cause syndromic multisystem autoimmune disease with acute liver failure","volume":"143","author":"Kleine-Eggebrecht","year":"2019","journal-title":"Pediatrics"},{"key":"10.1016\/j.jaip.2021.04.010_bib9","doi-asserted-by":"crossref","first-page":"1346","DOI":"10.1002\/ajmg.a.61169","article-title":"Deciphering Developmental Disorders (DDD) Study, Wilson LC. Biallelic human ITCH variants causing a multisystem disease with dysmorphic features: a second report","volume":"179","author":"Brittain","year":"2019","journal-title":"Am J Med Genet A"},{"key":"10.1016\/j.jaip.2021.04.010_bib10","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1038\/ng0298-143","article-title":"The itchy locus encodes a novel ubiquitin protein ligase that is disrupted in a18H mice","volume":"18","author":"Perry","year":"1998","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaip.2021.04.010_bib11","doi-asserted-by":"crossref","first-page":"997","DOI":"10.1038\/ni.3488","article-title":"Itch inhibits IL-17-mediated colon inflammation and tumorigenesis by ROR-gammat ubiquitination","volume":"17","author":"Kathania","year":"2016","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib12","doi-asserted-by":"crossref","first-page":"2277","DOI":"10.4049\/jimmunol.1701478","article-title":"Gut microbiota contributes to spontaneous colitis in E3 ligase Itch-deficient mice","volume":"204","author":"Kathania","year":"2020","journal-title":"J\u00a0Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib13","doi-asserted-by":"crossref","first-page":"657","DOI":"10.1038\/ni.2912","article-title":"The E3 ubiquitin ligase Itch is required for the differentiation of follicular helper T cells","volume":"15","author":"Xiao","year":"2014","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib14","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1038\/ni763","article-title":"Dysregulation of T lymphocyte function in itchy mice: a role for Itch in TH2 differentiation","volume":"3","author":"Fang","year":"2002","journal-title":"Nat Immunol"},{"key":"10.1016\/j.jaip.2021.04.010_bib15","doi-asserted-by":"crossref","first-page":"4273","DOI":"10.1182\/blood-2007-10-115667","article-title":"Itch\u2013\/\u2013 alphabeta and gammadelta T cells independently contribute to autoimmunity in Itchy mice","volume":"111","author":"Parravicini","year":"2008","journal-title":"Blood"},{"key":"10.1016\/j.jaip.2021.04.010_bib16","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature15393","article-title":"A\u00a0global reference for human genetic variation","volume":"526","author":"Auton","year":"2015","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2021.04.010_bib18","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/nature19057","article-title":"Analysis of protein-coding genetic variation in 60,706 humans","volume":"536","author":"Lek","year":"2016","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2021.04.010_bib19","doi-asserted-by":"crossref","first-page":"434","DOI":"10.1038\/s41586-020-2308-7","article-title":"The mutational constraint spectrum quantified from variation in 141,456 humans","volume":"581","author":"Karczewski","year":"2020","journal-title":"Nature"},{"key":"10.1016\/j.jaip.2021.04.010_bib20","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/978-1-0716-0266-9_1","article-title":"Exploration of T-cell diversity using mass cytometry","volume":"2111","author":"O'Boyle","year":"2020","journal-title":"Methods Mol Biol"},{"key":"10.1016\/j.jaip.2021.04.010_bib21","doi-asserted-by":"crossref","first-page":"e1005112","DOI":"10.1371\/journal.pcbi.1005112","article-title":"Cytofkit: a bioconductor package for an integrated mass cytometry data analysis pipeline","volume":"12","author":"Chen","year":"2016","journal-title":"PLoS Comput Biol"},{"key":"10.1016\/j.jaip.2021.04.010_bib22","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1016\/j.cell.2015.05.047","article-title":"Data-driven phenotypic dissection of AML reveals progenitor-like cells that correlate with prognosis","volume":"162","author":"Levine","year":"2015","journal-title":"Cell"},{"key":"10.1016\/j.jaip.2021.04.010_bib23","doi-asserted-by":"crossref","first-page":"421","DOI":"10.1038\/s41598-018-36844-9","article-title":"The E3 ubiquitin ligase Itch is required for B-cell development","volume":"9","author":"Liu","year":"2019","journal-title":"Sci Rep"}],"container-title":["The Journal of Allergy and Clinical Immunology: In Practice"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213219821004505?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2213219821004505?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T05:27:46Z","timestamp":1761974866000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2213219821004505"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2021,7]]}},"alternative-id":["S2213219821004505"],"URL":"https:\/\/doi.org\/10.1016\/j.jaip.2021.04.010","relation":{},"ISSN":["2213-2198"],"issn-type":[{"value":"2213-2198","type":"print"}],"subject":[],"published":{"date-parts":[[2021,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation","name":"articletitle","label":"Article Title"},{"value":"The Journal of Allergy and Clinical Immunology: In Practice","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.jaip.2021.04.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2021 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}