{"created":"2023-05-15T16:40:20.088038+00:00","id":14553,"links":{},"metadata":{"_buckets":{"deposit":"5b9f90e7-6396-4130-81e2-909f02f46768"},"_deposit":{"created_by":2,"id":"14553","owners":[2],"pid":{"revision_id":0,"type":"depid","value":"14553"},"status":"published"},"_oai":{"id":"oai:nagasaki-u.repo.nii.ac.jp:00014553","sets":["8:9"]},"author_link":["53444","53446","53442","53440","53451","53443","53447","53450","53438","53441","53445","53449","53439","53448"],"item_2_biblio_info_6":{"attribute_name":"書誌情報","attribute_value_mlt":[{"bibliographicIssueDates":{"bibliographicIssueDate":"2011-03","bibliographicIssueDateType":"Issued"},"bibliographicIssueNumber":"3","bibliographicPageEnd":"209","bibliographicPageStart":"205","bibliographicVolumeNumber":"48","bibliographic_titles":[{"bibliographic_title":"Journal of medical genetics"}]}]},"item_2_description_4":{"attribute_name":"抄録","attribute_value_mlt":[{"subitem_description":"Background Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. Methods and results The patient was diagnosed with PAP at the age of 36 and developed respiratory failure. She was negative for GM-CSF autoantibody and had no underlying disease. Signalling and genetic defects in GM-CSF receptor were screened. GM-CSF-stimulated STAT5 phosphorylation was not observed and GM-CSF-Rβc expression was defective in the patient's blood cells. Genetic screening revealed a homozygous, single-base deletion at nt 631 in exon 6 of CSF2RB on chromosome 22, which caused reductions in GM-CSF dependent signalling and function. Both parents, who were second cousins, showed no pulmonary symptoms, and had normal GM-CSF-signalling, but had a CSF2RB allele with the identical deletion, indicating that the mutant allele may give rise to PAP in an autosomal recessive manner. Conclusions This is the first report identifying a genetic defect in CSF2RB that causes deficiency of GM-CSF-Rβc expression and impaired signalling downstream. These results suggested that GM-CSF signalling was compensated by other signalling pathways, leading to adult-onset PAP.","subitem_description_type":"Abstract"}]},"item_2_description_63":{"attribute_name":"引用","attribute_value_mlt":[{"subitem_description":"Journal of medical genetics, 48(3), pp.205-209; 2011","subitem_description_type":"Other"}]},"item_2_publisher_33":{"attribute_name":"出版者","attribute_value_mlt":[{"subitem_publisher":"BMJ Publishing"}]},"item_2_relation_11":{"attribute_name":"PubMed番号","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"21075760","subitem_relation_type_select":"PMID"}}]},"item_2_relation_12":{"attribute_name":"DOI","attribute_value_mlt":[{"subitem_relation_type":"isIdenticalTo","subitem_relation_type_id":{"subitem_relation_type_id_text":"10.1136/jmg.2010.082586","subitem_relation_type_select":"DOI"}}]},"item_2_rights_13":{"attribute_name":"権利","attribute_value_mlt":[{"subitem_rights":"Copyright Article author (or their employer) 2010."}]},"item_2_source_id_10":{"attribute_name":"書誌レコードID","attribute_value_mlt":[{"subitem_source_identifier":"AA00702295","subitem_source_identifier_type":"NCID"}]},"item_2_source_id_7":{"attribute_name":"ISSN","attribute_value_mlt":[{"subitem_source_identifier":"00222593","subitem_source_identifier_type":"ISSN"}]},"item_2_source_id_8":{"attribute_name":"EISSN","attribute_value_mlt":[{"subitem_source_identifier":"14686244","subitem_source_identifier_type":"ISSN"}]},"item_2_version_type_16":{"attribute_name":"著者版フラグ","attribute_value_mlt":[{"subitem_version_resource":"http://purl.org/coar/version/c_970fb48d4fbd8a85","subitem_version_type":"VoR"}]},"item_creator":{"attribute_name":"著者","attribute_type":"creator","attribute_value_mlt":[{"creatorNames":[{"creatorName":"Tanaka, Takeshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Motoi, Natsuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tsuchihashi, Yoshiko"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tazawa, Ryushi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kaneko, Chinatsu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nei, Takahito"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Yamamoto, Toshiyuki"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Hayashi, Tomayoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Tagawa, Tsutomu"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nagayasu, Takeshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Kuribayashi, Futoshi"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Ariyoshi, Koya"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Nakata, Koh"}],"nameIdentifiers":[{}]},{"creatorNames":[{"creatorName":"Morimoto, Konosuke"}],"nameIdentifiers":[{}]}]},"item_files":{"attribute_name":"ファイル情報","attribute_type":"file","attribute_value_mlt":[{"accessrole":"open_date","date":[{"dateType":"Available","dateValue":"2020-12-22"}],"displaytype":"detail","filename":"JMG_Tanaka.pdf","filesize":[{"value":"494.1 kB"}],"format":"application/pdf","licensetype":"license_note","mimetype":"application/pdf","url":{"label":"JMG_Tanaka.pdf","url":"https://nagasaki-u.repo.nii.ac.jp/record/14553/files/JMG_Tanaka.pdf"},"version_id":"2dae0f39-cafe-4d6a-b867-7d5e4685fabb"}]},"item_language":{"attribute_name":"言語","attribute_value_mlt":[{"subitem_language":"eng"}]},"item_resource_type":{"attribute_name":"資源タイプ","attribute_value_mlt":[{"resourcetype":"journal article","resourceuri":"http://purl.org/coar/resource_type/c_6501"}]},"item_title":"Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.","item_titles":{"attribute_name":"タイトル","attribute_value_mlt":[{"subitem_title":"Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB."}]},"item_type_id":"2","owner":"2","path":["9"],"pubdate":{"attribute_name":"公開日","attribute_value":"2011-01-06"},"publish_date":"2011-01-06","publish_status":"0","recid":"14553","relation_version_is_last":true,"title":["Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB."],"weko_creator_id":"2","weko_shared_id":2},"updated":"2023-05-15T19:01:57.469880+00:00"}