{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,16]],"date-time":"2026-03-16T19:00:45Z","timestamp":1773687645652,"version":"3.50.1"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2022,2,1]],"date-time":"2022-02-01T00:00:00Z","timestamp":1643673600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2022,2]]},"DOI":"10.1016\/j.clim.2022.108930","type":"journal-article","created":{"date-parts":[[2022,1,19]],"date-time":"2022-01-19T11:58:21Z","timestamp":1642593501000},"page":"108930","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":6,"special_numbering":"C","title":["Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia"],"prefix":"10.1016","volume":"235","author":[{"given":"Abduarahman","family":"Almutairi","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maha M.","family":"Amin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohamed A.M.","family":"Rashwan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marwa H.","family":"Elnagdy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ragheed","family":"Rizk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara A.","family":"Bahgat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Craig D.","family":"Platt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ali","family":"Sobh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.clim.2022.108930_bb0005","doi-asserted-by":"crossref","first-page":"4219","DOI":"10.1172\/JCI85647","article-title":"Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity","volume":"126","author":"Massaad","year":"2016","journal-title":"J. Clin. Invest."},{"issue":"8","key":"10.1016\/j.clim.2022.108930_bb0010","doi-asserted-by":"crossref","first-page":"1331","DOI":"10.1182\/blood-2014-05-573105","article-title":"Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis","volume":"124","author":"Zhang","year":"2014","journal-title":"Blood"},{"issue":"1","key":"10.1016\/j.clim.2022.108930_bb0015","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1516767","article-title":"Resolution of disease phenotypes resulting from multilocus genomic variation","volume":"376","author":"Posey","year":"2017","journal-title":"N. Engl. J. Med."},{"issue":"3","key":"10.1016\/j.clim.2022.108930_bb0020","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1111\/cge.13150","article-title":"Digenic inheritance and genetic modifiers","volume":"93","author":"Deltas","year":"2018","journal-title":"Clin. Genet."},{"issue":"5","key":"10.1016\/j.clim.2022.108930_bb0025","doi-asserted-by":"crossref","first-page":"1501","DOI":"10.1083\/jcb.110.5.1501","article-title":"Membrane biogenesis during B cell differentiation: most endoplasmic reticulum proteins are expressed coordinately","volume":"110","author":"Wiest","year":"1990","journal-title":"J. Cell Biol."},{"issue":"19","key":"10.1016\/j.clim.2022.108930_bb0030","doi-asserted-by":"crossref","first-page":"3652","DOI":"10.1016\/j.febslet.2007.04.031","article-title":"Managing and exploiting stress in the antibody factory","volume":"581","author":"Cenci","year":"2007","journal-title":"FEBS Lett."},{"issue":"53","key":"10.1016\/j.clim.2022.108930_bb0035","doi-asserted-by":"crossref","DOI":"10.3791\/2730-v","article-title":"Live cell calcium imaging combined with siRNA mediated gene silencing identifies Ca(2)(+) leak channels in the ER membrane and their regulatory mechanisms","author":"Lang","year":"2011","journal-title":"J. Vis. Exp."},{"issue":"6969","key":"10.1016\/j.clim.2022.108930_bb0040","doi-asserted-by":"crossref","first-page":"36","DOI":"10.1038\/nature02218","article-title":"X-ray structure of a protein-conducting channel","volume":"427","author":"Van den Berg","year":"2004","journal-title":"Nature"},{"key":"10.1016\/j.clim.2022.108930_bb0045","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.27187","article-title":"The Sec61 translocon limits IRE1\u03b1 signaling during the unfolded protein response","volume":"6","author":"Sundaram","year":"2017","journal-title":"eLife"},{"issue":"4","key":"10.1016\/j.clim.2022.108930_bb0050","doi-asserted-by":"crossref","first-page":"1427","DOI":"10.1016\/j.jaci.2017.06.042","article-title":"Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)","volume":"141","author":"Schubert","year":"2018","journal-title":"J. Allergy Clin. Immunol."},{"issue":"5","key":"10.1016\/j.clim.2022.108930_bb0055","doi-asserted-by":"crossref","first-page":"1180","DOI":"10.1016\/j.jaci.2020.03.034","article-title":"Defective Sec61\u03b11 underlies a novel cause of autosomal dominant severe congenital neutropenia","volume":"146","author":"Van Nieuwenhove","year":"2020","journal-title":"J. Allergy Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108930_bb0060","doi-asserted-by":"crossref","first-page":"174","DOI":"10.1016\/j.ajhg.2016.05.028","article-title":"Heterozygous loss-of-function SEC61A1 mutations cause autosomal-dominant tubulo-interstitial and glomerulocystic kidney disease with Anemia","volume":"99","author":"Bolar","year":"2016","journal-title":"Am. J. Hum. Genet."},{"issue":"2","key":"10.1016\/j.clim.2022.108930_bb0065","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1038\/nri2691","article-title":"The IL-1 family: regulators of immunity","volume":"10","author":"Sims","year":"2010","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2022.108930_bb0070","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1146\/annurev.immunol.021908.132612","article-title":"Immunological and inflammatory functions of the interleukin-1 family","volume":"27","author":"Dinarello","year":"2009","journal-title":"Annu. Rev. Immunol."},{"issue":"4","key":"10.1016\/j.clim.2022.108930_bb0075","doi-asserted-by":"crossref","first-page":"1067","DOI":"10.1016\/j.jaci.2014.09.043","article-title":"IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis","volume":"135","author":"Hussain","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"issue":"9","key":"10.1016\/j.clim.2022.108930_bb0080","doi-asserted-by":"crossref","first-page":"e67","DOI":"10.1093\/nar\/gkp215","article-title":"Human splicing finder: an online bioinformatics tool to predict splicing signals","volume":"37","author":"Desmet","year":"2009","journal-title":"Nucleic Acids Res."},{"issue":"4","key":"10.1016\/j.clim.2022.108930_bb0085","doi-asserted-by":"crossref","first-page":"361","DOI":"10.1038\/nmeth.2890","article-title":"MutationTaster2: mutation prediction for the deep-sequencing age","volume":"11","author":"Schwarz","year":"2014","journal-title":"Nat. Methods"},{"issue":"3","key":"10.1016\/j.clim.2022.108930_bb0090","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1016\/j.ajhg.2011.07.022","article-title":"Mutations in IL36RN\/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis","volume":"89","author":"Onoufriadis","year":"2011","journal-title":"Am. J. Hum. Genet."},{"issue":"12","key":"10.1016\/j.clim.2022.108930_bb0095","doi-asserted-by":"crossref","first-page":"6053","DOI":"10.4049\/jimmunol.1301481","article-title":"IL-36 promotes myeloid cell infiltration, activation, and inflammatory activity in skin","volume":"192","author":"Foster","year":"2014","journal-title":"J. Immunol."},{"issue":"3","key":"10.1016\/j.clim.2022.108930_bb0100","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1007\/s10875-019-00622-7","article-title":"Interleukin-36 receptor antagonist deficiency (DITRA) with a novel IL36RN homozygous mutation c.200G > T (P.Cys67Phe) in a young Colombian woman","volume":"39","author":"Zea-Vera","year":"2019","journal-title":"J. Clin. Immunol."},{"issue":"1","key":"10.1016\/j.clim.2022.108930_bb0105","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."}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622000109?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661622000109?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,26]],"date-time":"2025-10-26T16:04:50Z","timestamp":1761494690000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661622000109"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2]]},"references-count":21,"alternative-id":["S1521661622000109"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2022.108930","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2022,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Digenic inheritance of IL-36RA and SEC61A1 mutations underlies generalized pustular psoriasis with hypogammaglobulinemia","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2022.108930","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2022 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}],"article-number":"108930"}}