| アイテムタイプ |
学術雑誌論文 / Journal Article(1) |
| 公開日 |
2011-01-06 |
| タイトル |
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タイトル |
Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in CSF2RB. |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ識別子 |
http://purl.org/coar/resource_type/c_6501 |
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資源タイプ |
journal article |
| 著者 |
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 |
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内容記述タイプ |
Abstract |
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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 |
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出版者 |
BMJ Publishing |
| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
00222593 |
| EISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
14686244 |
| 書誌レコードID |
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収録物識別子タイプ |
NCID |
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収録物識別子 |
AA00702295 |
| PubMed番号 |
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関連タイプ |
isIdenticalTo |
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|
識別子タイプ |
PMID |
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関連識別子 |
21075760 |
| DOI |
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関連タイプ |
isIdenticalTo |
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識別子タイプ |
DOI |
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関連識別子 |
10.1136/jmg.2010.082586 |
| 権利 |
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|
権利情報 |
Copyright Article author (or their employer) 2010. |
| 著者版フラグ |
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出版タイプ |
VoR |
|
出版タイプResource |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| 引用 |
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内容記述タイプ |
Other |
|
内容記述 |
Journal of medical genetics, 48(3), pp.205-209; 2011 |
JMG_Tanaka.pdf (494.1 kB)
