{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T16:08:44Z","timestamp":1791389324079,"version":"4.3.3"},"reference-count":28,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2023,10,1]],"date-time":"2023-10-01T00:00:00Z","timestamp":1696118400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,10,4]],"date-time":"2024-10-04T00:00:00Z","timestamp":1728000000000},"content-version":"am","delay-in-days":369,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/501100004794","name":"Centre National de la Recherche Scientifique","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004794","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003762","name":"Institut Pasteur","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003762","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001665","name":"ANR","doi-asserted-by":"publisher","award":["ANR-21-CE17-0025 JDMINF2"],"award-info":[{"award-number":["ANR-21-CE17-0025 JDMINF2"]}],"id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001677","name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001677","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":[[2023,10]]},"DOI":"10.1016\/j.jaci.2023.06.004","type":"journal-article","created":{"date-parts":[[2023,6,19]],"date-time":"2023-06-19T20:44:41Z","timestamp":1687207481000},"page":"972-983","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":39,"title":["Successful treatment of JAK1-associated inflammatory disease"],"prefix":"10.1016","volume":"152","author":[{"given":"Antoine","family":"Fayand","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"Hentgen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Posseme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Lacout","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Capucine","family":"Picard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philippe","family":"Moguelet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margaux","family":"Cescato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nabiha","family":"Sbeih","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas R.J.","family":"Moreau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yixiang Y.J.","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Luc","family":"Charuel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aur\u00e9lien","family":"Corneau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joelle","family":"Deibener-Kaminsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phanie","family":"Dupuy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mathieu","family":"Fusaro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benedicte","family":"Hoareau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alain","family":"Hovnanian","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vincent","family":"Langlois","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Le Corre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thiago T.","family":"Maciel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Snaigune","family":"Miskinyte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Makoto","family":"Miyara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Moulinet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magali","family":"Perret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie H\u00e9l\u00e8ne","family":"Schuhmacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rachel","family":"Rignault-Bricard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S\u00e9bastien","family":"Viel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e9lique","family":"Vinit","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ang\u00e8le","family":"Soria","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darragh","family":"Duffy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean-Marie","family":"Launay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jacques","family":"Callebert","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean Philippe","family":"Herbeuval","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1300-0187","authenticated-orcid":false,"given":"Mathieu P.","family":"Rodero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sophie","family":"Georgin-Lavialle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.jaci.2023.06.004_bib1","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.coi.2015.01.005","article-title":"Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind","volume":"32","author":"Boisson","year":"2015","journal-title":"Curr Opin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib2","doi-asserted-by":"crossref","DOI":"10.1126\/sciimmunol.abb1662","article-title":"Human inborn errors of immunity: an expanding universe","volume":"5","author":"Notarangelo","year":"2020","journal-title":"Sci Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib3","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1007\/s10875-019-00737-x","article-title":"Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee","volume":"40","author":"Tangye","year":"2020","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib4","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1007\/s10875-021-00980-1","article-title":"The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS Committee","volume":"41","author":"Tangye","year":"2021","journal-title":"J Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib5","doi-asserted-by":"crossref","DOI":"10.3389\/fimmu.2021.717388","article-title":"Emerging place of JAK inhibitors in the treatment of inborn errors of immunity","volume":"12","author":"Hadjadj","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib6","doi-asserted-by":"crossref","first-page":"819","DOI":"10.1016\/j.jaci.2021.10.027","article-title":"Pathogenic insights from genetic causes of autoinflammatory inflammasomopathies and interferonopathies","volume":"149","author":"Lin","year":"2022","journal-title":"J Allergy Clin Immunol"},{"issue":"Suppl 3","key":"10.1016\/j.jaci.2023.06.004_bib7","doi-asserted-by":"crossref","first-page":"s1","DOI":"10.1136\/gutjnl-2019-318484","article-title":"British Society of Gastroenterology consensus guidelines on the management of inflammatory bowel disease in adults","volume":"68","author":"Lamb","year":"2019","journal-title":"Gut"},{"key":"10.1016\/j.jaci.2023.06.004_bib8","doi-asserted-by":"crossref","first-page":"924","DOI":"10.1002\/acr.24596","article-title":"2021 American College of Rheumatology guideline for the treatment of rheumatoid arthritis","volume":"73","author":"Fraenkel","year":"2021","journal-title":"Arthritis Care Res (Hoboken)"},{"key":"10.1016\/j.jaci.2023.06.004_bib9","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1016\/j.jaci.2021.08.009","article-title":"JAK inhibitors in the treatment of atopic dermatitis","volume":"148","author":"Chovatiya","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib10","doi-asserted-by":"crossref","first-page":"1984","DOI":"10.1002\/pro.3519","article-title":"The molecular details of cytokine signaling via the JAK\/STAT pathway","volume":"27","author":"Morris","year":"2018","journal-title":"Protein Sci"},{"key":"10.1016\/j.jaci.2023.06.004_bib11","doi-asserted-by":"crossref","DOI":"10.1172\/jci.insight.150849","article-title":"Human JAK1 gain of function causes dysregulated myelopoeisis and severe allergic inflammation","volume":"7","author":"Biggs","year":"2022","journal-title":"JCI Insight"},{"key":"10.1016\/j.jaci.2023.06.004_bib12","doi-asserted-by":"crossref","first-page":"2016","DOI":"10.1016\/j.jaci.2016.12.957","article-title":"JAK1 gain-of-function causes an autosomal dominant immune dysregulatory and hypereosinophilic syndrome","volume":"139","author":"Del Bel","year":"2017","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib13","doi-asserted-by":"crossref","first-page":"672","DOI":"10.1016\/j.immuni.2020.07.006","article-title":"Complex autoinflammatory syndrome unveils fundamental principles of JAK1 kinase transcriptional and biochemical function","volume":"53","author":"Gruber","year":"2020","journal-title":"Immunity"},{"key":"10.1016\/j.jaci.2023.06.004_bib14","article-title":"Autoinflammatory keratinization disease with hepatitis and autism reveals roles for JAK1 kinase hyperactivity in autoinflammation","volume":"12","author":"Takeichi","year":"2021","journal-title":"Front Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib15","doi-asserted-by":"crossref","first-page":"734","DOI":"10.1016\/j.jaci.2020.05.046","article-title":"Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing","volume":"147","author":"Fusaro","year":"2021","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib16","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","article-title":"Assessment of interferon-related biomarkers in Aicardi-Gouti\u00e8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study","volume":"12","author":"Rice","year":"2013","journal-title":"Lancet Neurol"},{"key":"10.1016\/j.jaci.2023.06.004_bib17","doi-asserted-by":"crossref","first-page":"181","DOI":"10.1007\/s40257-018-0413-2","article-title":"JAK inhibitors for atopic dermatitis: an update","volume":"20","author":"He","year":"2019","journal-title":"Am J Clin Dermatol"},{"key":"10.1016\/j.jaci.2023.06.004_bib18","doi-asserted-by":"crossref","first-page":"913","DOI":"10.1016\/j.jaad.2018.01.018","article-title":"Baricitinib in adult patients with moderate-to-severe atopic dermatitis: a phase 2 parallel, double-blinded, randomized placebo-controlled multiple-dose study","volume":"80","author":"Guttman-Yassky","year":"2019","journal-title":"J Am Acad Dermatol"},{"key":"10.1016\/j.jaci.2023.06.004_bib19","doi-asserted-by":"crossref","first-page":"364","DOI":"10.1002\/cpt.936","article-title":"Pharmacokinetics, pharmacodynamics, and proposed dosing of the oral JAK1 and JAK2 inhibitor baricitinib in pediatric and young adult CANDLE and SAVI patients","volume":"104","author":"Kim","year":"2018","journal-title":"Clin Pharmacol Ther"},{"key":"10.1016\/j.jaci.2023.06.004_bib20","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1038\/s41525-021-00196-7","article-title":"STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses","volume":"6","author":"Scott","year":"2021","journal-title":"NPJ Genom Med"},{"key":"10.1016\/j.jaci.2023.06.004_bib21","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1038\/ng.3040","article-title":"Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease","volume":"46","author":"Flanagan","year":"2014","journal-title":"Nat Genet"},{"key":"10.1016\/j.jaci.2023.06.004_bib22","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1182\/blood-2016-09-737817","article-title":"Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea","volume":"129","author":"Ma","year":"2017","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2023.06.004_bib23","doi-asserted-by":"crossref","DOI":"10.1084\/jem.20221755","article-title":"Human germline heterozygous gain-of-function STAT6 variants cause severe allergic disease","volume":"220","author":"Sharma","year":"2023","journal-title":"J Exp Med"},{"key":"10.1016\/j.jaci.2023.06.004_bib24","doi-asserted-by":"crossref","first-page":"1402","DOI":"10.1016\/j.jaci.2022.12.802","article-title":"STAT6 gain-of-function variant exacerbates multiple allergic symptoms","volume":"151","author":"Takeuchi","year":"2023","journal-title":"J Allergy Clin Immunol"},{"key":"10.1016\/j.jaci.2023.06.004_bib25","doi-asserted-by":"crossref","DOI":"10.1016\/j.jaci.2023.01.023","article-title":"Severe allergic dysregulation due to a gain of function mutation in the transcription factor STAT6","author":"Baris","year":"2023","journal-title":"J Allergy Clin Immunol Epub"},{"key":"10.1016\/j.jaci.2023.06.004_bib27","doi-asserted-by":"crossref","first-page":"1958","DOI":"10.1016\/j.jaip.2019.02.018","article-title":"Clinical aspects of STAT3 gain-of-function germline mutations: a systematic review","volume":"7","author":"Fabre","year":"2019","journal-title":"J Allergy Clin Immunol Pract"},{"issue":"Supplement 1","key":"10.1016\/j.jaci.2023.06.004_bib28","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1182\/blood-2020-142078","article-title":"Germline gain-of-function JAK3 mutation in familial chronic lymphoproliferative disorder of NK cells","volume":"136","author":"Lesmana","year":"2020","journal-title":"Blood"},{"key":"10.1016\/j.jaci.2023.06.004_bib26","doi-asserted-by":"crossref","first-page":"78","DOI":"10.3390\/cancers12010078","article-title":"Characterization of JAK1 pseudokinase domain in cytokine signaling","volume":"12","author":"Raivola","year":"2019","journal-title":"Cancers (Basel)"}],"container-title":["Journal of Allergy and Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674923007996?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0091674923007996?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T09:31:37Z","timestamp":1778664697000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0091674923007996"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,10]]},"references-count":28,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023,10]]}},"alternative-id":["S0091674923007996"],"URL":"https:\/\/doi.org\/10.1016\/j.jaci.2023.06.004","relation":{},"ISSN":["0091-6749"],"issn-type":[{"value":"0091-6749","type":"print"}],"subject":[],"published":{"date-parts":[[2023,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Successful treatment of JAK1-associated inflammatory disease","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.2023.06.004","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2023 American Academy of Allergy, Asthma & Immunology","name":"copyright","label":"Copyright"}]}}