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Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB.
http://hdl.handle.net/10069/24550
http://hdl.handle.net/10069/24550aea7eb9f-2971-4883-86da-ef11cf33963f
| 名前 / ファイル | ライセンス | アクション |
|---|---|---|
JMG_Tanaka.pdf (494.1 kB)
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| Item type | 学術雑誌論文 / Journal Article(1) | |||||
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| 公開日 | 2011-01-06 | |||||
| タイトル | ||||||
| タイトル | Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| 著者 |
Tanaka, Takeshi
× Tanaka, Takeshi× Motoi, Natsuki× Tsuchihashi, Yoshiko× Tazawa, Ryushi× Kaneko, Chinatsu× Nei, Takahito× Yamamoto, Toshiyuki× Hayashi, Tomayoshi× Tagawa, Tsutomu× Nagayasu, Takeshi× Kuribayashi, Futoshi× Ariyoshi, Koya× Nakata, Koh× Morimoto, Konosuke |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 書誌情報 |
Journal of medical genetics 巻 48, 号 3, p. 205-209, 発行日 2011-03 |
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| 出版者 | ||||||
| 出版者 | BMJ Publishing | |||||
| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 00222593 | |||||
| EISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 14686244 | |||||
| 書誌レコードID | ||||||
| 収録物識別子タイプ | NCID | |||||
| 収録物識別子 | AA00702295 | |||||
| PubMed番号 | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | PMID | |||||
| 関連識別子 | 21075760 | |||||
| DOI | ||||||
| 関連タイプ | isIdenticalTo | |||||
| 識別子タイプ | DOI | |||||
| 関連識別子 | 10.1136/jmg.2010.082586 | |||||
| 権利 | ||||||
| 権利情報 | Copyright Article author (or their employer) 2010. | |||||
| 著者版フラグ | ||||||
| 出版タイプ | VoR | |||||
| 出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
| 引用 | ||||||
| 内容記述タイプ | Other | |||||
| 内容記述 | Journal of medical genetics, 48(3), pp.205-209; 2011 | |||||
