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Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance : a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
http://hdl.handle.net/10422/00013301
http://hdl.handle.net/10422/000133018f9b4723-57af-4ed2-98db-e197465e0fa2
Item type | 学術雑誌論文 / Journal Article(1) | |||||
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公開日 | 2022-05-24 | |||||
タイトル | ||||||
タイトル | Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance : a patient with a novel compound heterozygous pathogenic variant in SLC7A7. | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | SLC7A7 | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Lysinuric protein intolerance | |||||
キーワード | ||||||
言語 | en | |||||
主題Scheme | Other | |||||
主題 | Hemophagocytic lymphohistiocytosis | |||||
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 | |||||
アクセス権 | ||||||
アクセス権 | metadata only access | |||||
アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
著者 |
MATSUKAWA, Yukihiro
× MATSUKAWA, Yukihiro× SAKAMOTO, Kenichi× IKEDA, Yuhachi× TAGA, Takashi× KOSAKI, Kenjiro× MARUO, Yoshihiro |
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著者別名 |
松川, 幸弘
× 松川, 幸弘× 坂本, 謙一× 池田, 勇八× 多賀, 崇× 丸尾, 良浩 |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Lysinuric protein intolerance (LPI) (MIM#222700) is a rare autosomal recessive defect in bibasic amino acid transport caused by pathogenic variants in solute carrier family 7 member 7 gene ( SLC7A7). The symptoms begin after weaning from breast milk and include refusal of feeding, vomiting, and consequent failure to thrive. Some metabolic disorders, including LPI, are complicated by hemophagocytic lymphohistiocytosis (HLH); however, the frequency of HLH caused by inborn errors of metabolism is very rare in the HLH cohort. SLC7A7 consists of 11 exons, and has 66 known pathogenic variants. SLC7A7 is associated with HLH. Here, we report the case of a 32-year-old woman who presented with LPI and HLH. Genetic analysis revealed a novel compound heterozygosity in SLC7A7 with two pathogenic variants, c.713C>T (p. Sre238Phe) and c.625+1G>A (splicing acceptor site) inherited from her father and mother, respectively. | |||||
書誌情報 |
en : International journal of hematology 発行日 2022-05-09 |
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出版者 | ||||||
出版者 | Springer Nature | |||||
ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 1865-3774 | |||||
PMID | ||||||
識別子タイプ | PMID | |||||
関連識別子 | 35532875 | |||||
DOI | ||||||
識別子タイプ | DOI | |||||
関連識別子 | https://doi.org/10.1007/s12185-022-03375-z | |||||
関連名称 | 10.1007/s12185-022-03375-z | |||||
権利 | ||||||
権利情報 | © 2022. Japanese Society of Hematology. | |||||
資源タイプ | ||||||
内容記述タイプ | Other | |||||
内容記述 | Journal Article |