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Blood:亚等位基因Rag1突变可在淋巴细胞早期发育阶段影响其免疫功能

2018-05-11 MedSci MedSci原创

在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中,发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变。为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段,Lisa M. Ott de Bruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型,其研究结果于近日发表在Blood杂志上。免

在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中,发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变。为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段,Lisa M. Ott de Bruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型,其研究结果于近日发表在Blood杂志上。

免疫学特征显示T/B淋巴细胞部分发育、存在幼稚细胞和血清免疫球蛋白,但抗体反应受损,而且存在自身抗体,良好的模拟了CID-G/AI患者的表型。

通过高通量测序发现,早期祖细胞的Igh V和Trb V基因的应用存在显着偏移,在分选后对生产性Igh和Trb重排存在偏差,B细胞祖细胞凋亡增加。Igk位点重排受损,而且可检测到多反应性IgM抗体。

总而言之,本研究为我们理解亚等位基因Rag1突变如何改变T/B淋巴细胞的主要功能提供新的见解,从而为经常在患者中看到的免疫失调奠定理论基础。

原始出处

Lisa M. Ott de Bruin,et al. Hypomorphic Rag1 mutations alter the pre-immune repertoire at early stages of lymphoid development. Blood  2018  :blood-2017-12-820985;  doi: https://doi.org/10.1182/blood-2017-12-820985

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createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7cJ6ejWUr2nIia8qOvAKNdLHr32Df6G8iaoaOx6pHaoiacwp26DaslxZHCGbibZhhCGven4rvmWP60GahtzgFjgCjR/0, createdBy=6b111703011, createdName=有备才能无患, createdTime=Fri May 11 22:25:21 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314225, encodeId=ac3231422562, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=111, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri May 11 21:42:27 CST 2018, time=2018-05-11, status=1, ipAttribution=)]
    2018-05-13 neurowu
  4. 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channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Swp2ehfHpiciczeTntUyQOlIGMzQ705ic67sdMTVMbwTv7KbmlUvxrGvRSvQZjPkz7ib5tEDfIaORgczPtmHDpwojg/0, createdBy=c54b2163125, createdName=wqkm, createdTime=Fri May 11 22:51:25 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314238, encodeId=9ef331423819, content=在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上., beContent=null, objectType=article, channel=null, level=null, likeNumber=116, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7cJ6ejWUr2nIia8qOvAKNdLHr32Df6G8iaoaOx6pHaoiacwp26DaslxZHCGbibZhhCGven4rvmWP60GahtzgFjgCjR/0, createdBy=6b111703011, createdName=有备才能无患, createdTime=Fri May 11 22:25:21 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314225, encodeId=ac3231422562, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=111, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri May 11 21:42:27 CST 2018, time=2018-05-11, status=1, ipAttribution=)]
    2018-05-13 Jackie Li

    学习

    0

  7. 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topicName=等位基因)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=68e17955541, createdName=luckyshitiancai_42705686, createdTime=Sun May 13 11:40:00 CST 2018, time=2018-05-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1513532, encodeId=c4cb15135328b, content=<a href='/topic/show?id=9293289e30d' target=_blank style='color:#2F92EE;'>#免疫功能#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=28973, encryptionId=9293289e30d, topicName=免疫功能)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=4c37265, createdName=zhaojie88, createdTime=Sun May 13 11:40:00 CST 2018, time=2018-05-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314728, encodeId=42e6314e2805, content=学习, beContent=null, objectType=article, channel=null, level=null, likeNumber=105, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mStl88fu4NfBfgWn9nXBgH1sNSiaOAKhsKpN40jDHQKqcRzovau5VibLvREN8uxnu9sKoScBicHSiaDMmbveibFdrBiaD4k4IOPwlG/0, createdBy=b5d11730951, createdName=Jackie Li, createdTime=Sun May 13 10:35:02 CST 2018, time=2018-05-13, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314380, encodeId=88ed314380c6, content=学习学习谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=101, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTLbTp9nZtjwVrSZNxAXbAicnKQWnic2eBdJUQYhxO36XdkstSicr7FVF8p5ReH4omtmsbnLdvZLiaJJ1A/132, createdBy=8bff2327056, createdName=kafei, createdTime=Sat May 12 08:00:26 CST 2018, time=2018-05-12, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314252, encodeId=44ac3142522a, content=^_^^_^^_^^_^, beContent=null, objectType=article, channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Swp2ehfHpiciczeTntUyQOlIGMzQ705ic67sdMTVMbwTv7KbmlUvxrGvRSvQZjPkz7ib5tEDfIaORgczPtmHDpwojg/0, createdBy=c54b2163125, createdName=wqkm, createdTime=Fri May 11 22:51:25 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314238, encodeId=9ef331423819, content=在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上., beContent=null, objectType=article, channel=null, level=null, likeNumber=116, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7cJ6ejWUr2nIia8qOvAKNdLHr32Df6G8iaoaOx6pHaoiacwp26DaslxZHCGbibZhhCGven4rvmWP60GahtzgFjgCjR/0, createdBy=6b111703011, createdName=有备才能无患, createdTime=Fri May 11 22:25:21 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314225, encodeId=ac3231422562, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=111, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri May 11 21:42:27 CST 2018, time=2018-05-11, status=1, ipAttribution=)]
    2018-05-12 kafei

    学习学习谢谢

    0

  8. 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channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Swp2ehfHpiciczeTntUyQOlIGMzQ705ic67sdMTVMbwTv7KbmlUvxrGvRSvQZjPkz7ib5tEDfIaORgczPtmHDpwojg/0, createdBy=c54b2163125, createdName=wqkm, createdTime=Fri May 11 22:51:25 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314238, encodeId=9ef331423819, content=在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上., beContent=null, objectType=article, channel=null, level=null, likeNumber=116, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, 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    2018-05-11 wqkm

    ^_^^_^^_^^_^

    0

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channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Swp2ehfHpiciczeTntUyQOlIGMzQ705ic67sdMTVMbwTv7KbmlUvxrGvRSvQZjPkz7ib5tEDfIaORgczPtmHDpwojg/0, createdBy=c54b2163125, createdName=wqkm, createdTime=Fri May 11 22:51:25 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314238, encodeId=9ef331423819, content=在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上., beContent=null, objectType=article, channel=null, level=null, likeNumber=116, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/NUyjXTCJjo7cJ6ejWUr2nIia8qOvAKNdLHr32Df6G8iaoaOx6pHaoiacwp26DaslxZHCGbibZhhCGven4rvmWP60GahtzgFjgCjR/0, createdBy=6b111703011, createdName=有备才能无患, createdTime=Fri May 11 22:25:21 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314225, encodeId=ac3231422562, content=学习一下谢谢, beContent=null, objectType=article, channel=null, level=null, likeNumber=111, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/mONcle9pic3zSn0GqHrsfLGSUSR8zwnWWLT4FMl5XH8S58HuZslVkLsAPbXDXaliagK7TOxQfmngKibG1yrDonepCLDkcxGk8hS/0, createdBy=b8282062892, createdName=changjiu, createdTime=Fri May 11 21:42:27 CST 2018, time=2018-05-11, status=1, ipAttribution=)]
    2018-05-11 有备才能无患

    在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上.

    0

  10. 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channel=null, level=null, likeNumber=102, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/vi_32/Swp2ehfHpiciczeTntUyQOlIGMzQ705ic67sdMTVMbwTv7KbmlUvxrGvRSvQZjPkz7ib5tEDfIaORgczPtmHDpwojg/0, createdBy=c54b2163125, createdName=wqkm, createdTime=Fri May 11 22:51:25 CST 2018, time=2018-05-11, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=314238, encodeId=9ef331423819, content=在迟发性联合免疫缺陷的肉芽肿和(或)自身免疫(CID-GAI)和外周T细胞和B细胞功能异常的患者中.发现了允许残存的T细胞和B细胞发育的亚等位基因RAG1突变.为检测亚等位基因Rag1突变是如何影响淋巴细胞发育的最初期阶段.LisaM.OttdeBruin等人利用CRISPR/Case9技术建立携带与CID-G/AI患者中发现的相同突变的小鼠模型.其研究结果于近日发表在Blood杂志上., beContent=null, objectType=article, channel=null, level=null, likeNumber=116, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, 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    2018-05-11 changjiu

    学习一下谢谢

    0

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