{"created":"2025-02-21T03:47:33.835711+00:00","id":2007293,"links":{},"metadata":{"_buckets":{"deposit":"cf075ff1-b53c-47c0-8e2d-854a97e3d382"},"_deposit":{"created_by":41,"id":"2007293","owners":[41],"pid":{"revision_id":0,"type":"depid","value":"2007293"},"status":"published"},"_oai":{"id":"oai:hiroshima.repo.nii.ac.jp:02007293","sets":["1730444907710"]},"author_link":[],"item_1617186331708":{"attribute_name":"Title","attribute_value_mlt":[{"subitem_title":"Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC","subitem_title_language":"en"}]},"item_1617186419668":{"attribute_name":"Creator","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Noma, Kosuke","creatorNameLang":"en"}],"familyNames":[{"familyName":"Noma","familyNameLang":"en"}],"givenNames":[{"givenName":"Kosuke","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tsumura, Miyuki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Tsumura","familyNameLang":"en"}],"givenNames":[{"givenName":"Miyuki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Nguyen, Tina","creatorNameLang":"en"}],"familyNames":[{"familyName":"Nguyen","familyNameLang":"en"}],"givenNames":[{"givenName":"Tina","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Asano, Takaki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Asano","familyNameLang":"en"}],"givenNames":[{"givenName":"Takaki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Sakura, Fumiaki","creatorNameLang":"en"}],"familyNames":[{"familyName":"Sakura","familyNameLang":"en"}],"givenNames":[{"givenName":"Fumiaki","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tamaura, Moe","creatorNameLang":"en"}],"familyNames":[{"familyName":"Tamaura","familyNameLang":"en"}],"givenNames":[{"givenName":"Moe","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Imanaka, Yusuke","creatorNameLang":"en"}],"familyNames":[{"familyName":"Imanaka","familyNameLang":"en"}],"givenNames":[{"givenName":"Yusuke","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Mizoguchi, Yoko","creatorNameLang":"en"}],"familyNames":[{"familyName":"Mizoguchi","familyNameLang":"en"}],"givenNames":[{"givenName":"Yoko","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Karakawa, Shuhei","creatorNameLang":"en"}],"familyNames":[{"familyName":"Karakawa","familyNameLang":"en"}],"givenNames":[{"givenName":"Shuhei","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hayakawa, Seiichi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Hayakawa","familyNameLang":"en"}],"givenNames":[{"givenName":"Seiichi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Shoji, Takayo","creatorNameLang":"en"}],"familyNames":[{"familyName":"Shoji","familyNameLang":"en"}],"givenNames":[{"givenName":"Takayo","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Hosokawa, Junichi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Hosokawa","familyNameLang":"en"}],"givenNames":[{"givenName":"Junichi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Izawa, Kazushi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Izawa","familyNameLang":"en"}],"givenNames":[{"givenName":"Kazushi","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ling, Yun","creatorNameLang":"en"}],"familyNames":[{"familyName":"Ling","familyNameLang":"en"}],"givenNames":[{"givenName":"Yun","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Casanova, Jean-Laurent","creatorNameLang":"en"}],"familyNames":[{"familyName":"Casanova","familyNameLang":"en"}],"givenNames":[{"givenName":"Jean-Laurent","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Puel, Anne","creatorNameLang":"en"}],"familyNames":[{"familyName":"Puel","familyNameLang":"en"}],"givenNames":[{"givenName":"Anne","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Tangye, Stuart G.","creatorNameLang":"en"}],"familyNames":[{"familyName":"Tangye","familyNameLang":"en"}],"givenNames":[{"givenName":"Stuart G.","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ma, Cindy S.","creatorNameLang":"en"}],"familyNames":[{"familyName":"Ma","familyNameLang":"en"}],"givenNames":[{"givenName":"Cindy S.","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Ohara, Osamu","creatorNameLang":"en"}],"familyNames":[{"familyName":"Ohara","familyNameLang":"en"}],"givenNames":[{"givenName":"Osamu","givenNameLang":"en"}]},{"creatorNames":[{"creatorName":"Okada, Satoshi","creatorNameLang":"en"}],"familyNames":[{"familyName":"Okada","familyNameLang":"en"}],"givenNames":[{"givenName":"Satoshi","givenNameLang":"en"}]}]},"item_1617186476635":{"attribute_name":"Access Rights","attribute_value_mlt":[{"subitem_access_right":"open access","subitem_access_right_uri":"http://purl.org/coar/access_right/c_abf2"}]},"item_1617186499011":{"attribute_name":"Rights","attribute_value_mlt":[{"subitem_rights":"This version of the article has been accepted for publication, after peer review (when applicable) and is subject to Springer Nature’s AM terms of use, but is not the Version of Record and does not reflect post-acceptance improvements, or any corrections. The Version of Record is available online at: http://dx.doi.org/10.1007/s10875-023-01601-9","subitem_rights_language":"en"},{"subitem_rights":"This is not the published version. Please cite only the published version.","subitem_rights_language":"en"},{"subitem_rights":"この論文は出版社版ではありません。引用の際には出版社版をご確認、ご利用ください。","subitem_rights_language":"ja"}]},"item_1617186609386":{"attribute_name":"Subject","attribute_value_mlt":[{"subitem_subject":"Chronic mucocutaneous candidiasis","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"isolated CMC","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"IL-17 immunity","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"IL-17RC","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"knockout cell line","subitem_subject_language":"en","subitem_subject_scheme":"Other"},{"subitem_subject":"inborn error of immunity","subitem_subject_language":"en","subitem_subject_scheme":"Other"}]},"item_1617186626617":{"attribute_name":"Description","attribute_value_mlt":[{"subitem_description":"Purpose  Inborn errors of the IL-17A/F-responsive pathway lead to chronic mucocutaneous candidiasis (CMC) as a predominant clinical phenotype, without other significant clinical manifestations apart from mucocutaneous staphylococcal diseases. Among inborn errors affecting IL-17-dependent immunity, autosomal recessive (AR) IL-17RC deficiency is a rare disease with only three kindreds described to date. The lack of an in vitro functional evaluation system of IL17RC variants renders its diagnosis difficult. We sought to characterize a 7-year-old Japanese girl with CMC carrying a novel homozygous duplication variant of IL17RC and establish a simple in vitro system to evaluate the impact of this variant.  Methods  Flow cytometry, qPCR, RNA-sequencing, and immunoblotting were conducted, and an IL17RC-knockout cell line was established for functional evaluation.  Results  The patient presented with oral and mucocutaneous candidiasis without staphylococcal diseases since the age of 3 months. Genetic analysis showed that the novel duplication variant (Chr3: 9,971,476-9,971,606 dup (+131bp)) involving exon 13 of IL17RC results in a premature stop codon (p.D457Afs*16 or p.D457Afs*17). Our functional evaluation system revealed this duplication to be loss-of-function and enabled discrimination between loss-of-function and neutral IL17RC variants. The lack of response to IL-17A by the patient’s SV40-immortalized fibroblasts was restored by introducing WT-IL17RC, suggesting that the genotype identified is responsible for her clinical phenotype.  Conclusions  The clinical and cellular phenotype of the current case of AR IL-17RC deficiency supports a previous report on this rare disorder. Our newly established evaluation system will be useful for the diagnosis of AR IL-17RC deficiency, providing accurate validation of unknown IL17RC variants.","subitem_description_language":"en"},{"subitem_description":"SO is supported by the Japan Society for the Promotion of Science (JSPS) KAKENHI (grant numbers: 19H03620, 22H03041, 18KK0228, and 22KK0113) and the Japan Agency for Medical Research and Development (AMED) (grant number: JP23ek0109623, JP22ek0109480). MT is supported by MEXT/JSPS KAKENHI (grant numbers: 22K15921) JLC is supported by the National Institutes of Health (grant numbers: R01AI127564). SGT and CSM are supported by Investigator Grants awarded by the National Health and Medical Research Council of Australia and project grants from the Allergy & Immunology Foundation of Australia, and the Job Research Foundation. AP is supported by the Integrative Biology of Emerging Infectious Diseases Laboratoire d’Excellence (ANR-10-LABX-62-IBEID), the French National Research Agency (ANR) (grant no. GENCMCD-ANR-11-BSV3-005-01, no. HGDIFD-ANR-14-CE15-0006-01, no. EURO-CMC-ANR-14-RARE-0005-02), and the National Institute of Allergy and Infectious Diseases of the National Institutes of Health (grant no. U01AI109697 and no. R01AI127564).","subitem_description_language":"en","subitem_description_type":"Other"}]},"item_1617186643794":{"attribute_name":"Publisher","attribute_value_mlt":[{"subitem_publisher":"Springer","subitem_publisher_language":"en"}]},"item_1617186702042":{"attribute_name":"Language","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_1617186901218":{"attribute_name":"Funding Reference","attribute_value_mlt":[{"subitem_award_numbers":{"subitem_award_number":"19H03620","subitem_award_uri":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-19H03620/"},"subitem_award_titles":[{"subitem_award_title":"特定の病原体に対する易感染性に着眼した原発性免疫不全症の病因病態解明","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本学術振興会","subitem_funder_name_language":"ja"}]},{"subitem_award_numbers":{"subitem_award_number":"22H03041","subitem_award_uri":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-23K24302/"},"subitem_award_titles":[{"subitem_award_title":"Characterization of etiology of primary immunodeficiency by focusing on host susceptibility to specific pathogens","subitem_award_title_language":"en"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]},{"subitem_award_numbers":{"subitem_award_number":"18KK0228","subitem_award_uri":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-18KK0228/"},"subitem_award_titles":[{"subitem_award_title":"ウイルスに対する易感染性に着目した原発性免疫不全症の病因病態解明","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本学術振興会","subitem_funder_name_language":"ja"}]},{"subitem_award_numbers":{"subitem_award_number":"22KK0113","subitem_award_uri":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-22KK0113/"},"subitem_award_titles":[{"subitem_award_title":"Elucidating the etiopathogenesis of primary immunodeficiency with a focus on susceptibility to viruses","subitem_award_title_language":"en"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]},{"subitem_award_numbers":{"subitem_award_number":"23ek0109623","subitem_award_uri":"https://kaken.nii.ac.jp/ja/grant/KAKENHI-PROJECT-22K15921/"},"subitem_award_titles":[{"subitem_award_title":"マルチオミックス解析を用いた原発性免疫不全症の病因病態解析","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本学術振興会","subitem_funder_name_language":"ja"}]},{"subitem_award_numbers":{"subitem_award_number":"22ek0109480"},"subitem_award_titles":[{"subitem_award_title":"Multi-OMICS approaches to investigate molecular pathogenesis of primary immune deficiency","subitem_award_title_language":"en"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]},{"subitem_award_numbers":{"subitem_award_number":"22K15921"},"subitem_award_titles":[{"subitem_award_title":"原発性免疫不全症の診断困難例に対するロングリードシーケンス解析","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本学術振興会","subitem_funder_name_language":"ja"}]},{"subitem_award_titles":[{"subitem_award_title":"Long-read sequencing analysis for difficult to diagnose cases of primary immunodeficiency","subitem_award_title_language":"en"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]},{"subitem_award_titles":[{"subitem_award_title":"原発性免疫不全症の診断率向上に向けたCD45陽性細胞を用いたマルチオミックス解析の開発","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本医療研究開発機構","subitem_funder_name_language":"ja"}]},{"subitem_award_titles":[{"subitem_award_title":"原発性免疫不全症の診断率向上に向けたCD45陽性細胞を用いたマルチオミックス解析の開発","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Agency for Medical Research and Development (AMED)","subitem_funder_name_language":"en"}]},{"subitem_award_titles":[{"subitem_award_title":"従来のゲノム解析で診断困難な原発性免疫不全症患者の診断法の開発","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本医療研究開発機構","subitem_funder_name_language":"ja"}]},{"subitem_award_titles":[{"subitem_award_title":"従来のゲノム解析で診断困難な原発性免疫不全症患者の診断法の開発","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Agency for Medical Research and Development (AMED)","subitem_funder_name_language":"en"}]},{"subitem_award_titles":[{"subitem_award_title":"IL-17RC異常症の病態解明と新規IL-17Fシグナル伝達経路の同定","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"日本学術振興会","subitem_funder_name_language":"ja"}]},{"subitem_award_titles":[{"subitem_award_title":"IL-17RC異常症の病態解明と新規IL-17Fシグナル伝達経路の同定","subitem_award_title_language":"ja"}],"subitem_funder_names":[{"subitem_funder_name":"Japan Society for the Promotion of Science","subitem_funder_name_language":"en"}]}]},"item_1617187024783":{"attribute_name":"Page Start","attribute_value_mlt":[{"subitem_start_page":"18"}]},"item_1617187056579":{"attribute_name":"Bibliographic Information","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2023-12-22","bibliographicIssueDateType":"Issued"},"bibliographicPageStart":"18","bibliographicVolumeNumber":"44","bibliographic_titles":[{"bibliographic_title":"Journal of Clinical Immunology","bibliographic_titleLang":"en"}]}]},"item_1617258105262":{"attribute_name":"Resource Type","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_1617265215918":{"attribute_name":"Version Type","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_ab4af688f83e57aa","subitem_version_type":"AM"}]},"item_1617353299429":{"attribute_name":"Relation","attribute_value_mlt":[{"subitem_relation_type":"isVersionOf","subitem_relation_type_id":{"subitem_relation_type_id_text":"https://doi.org/10.1007/s10875-023-01601-9","subitem_relation_type_select":"DOI"}}]},"item_1617605131499":{"attribute_name":"File","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_access","date":[{"dateType":"Available","dateValue":"2025-01-21"}],"displaytype":"simple","filename":"JClinimmunol_44_18.pdf","filesize":[{"value":"2.0 MB"}],"mimetype":"application/pdf","url":{"objectType":"fulltext","url":"https://hiroshima.repo.nii.ac.jp/record/2007293/files/JClinimmunol_44_18.pdf"},"version_id":"e9c266be-9790-4758-9a47-993af221f35f"}]},"item_1732771732025":{"attribute_name":"旧ID","attribute_value":"56141"},"item_title":"Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC","item_type_id":"40003","owner":"41","path":["1730444907710"],"pubdate":{"attribute_name":"PubDate","attribute_value":"2025-01-21"},"publish_date":"2025-01-21","publish_status":"0","recid":"2007293","relation_version_is_last":true,"title":["Isolated Chronic Mucocutaneous Candidiasis due to a Novel Duplication Variant of IL17RC"],"weko_creator_id":"41","weko_shared_id":-1},"updated":"2025-02-21T09:38:14.828379+00:00"}