通过红细胞输血进行的PNP缺乏症前期酶替代治疗。 - Suppr

Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.

作者信息

Eichinger Anna, von Bernuth Horst, Dedieu Cinzia, Schroeder Sebastian A, la Marca Giancarlo, Albert Michael H, Hauck Fabian

机构信息

Department of Pediatrics, Dr. von Hauner Children's Hospital, University Hospital, Ludwig-Maximilians-Universität München, Munich, Germany.

Department of Pediatric Pneumology, Immunology and Intensive Care, Charité - Universitätsmedizin Berlin, Berlin, Germany.

出版信息

J Clin Immunol. 2021 Jul;41(5):1112-1115. doi: 10.1007/s10875-021-01003-9. Epub 2021 Feb 27.

DOI:10.1007/s10875-021-01003-9

PMID:33641045

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8249256/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a211/8249256/679718ac5b81/10875_2021_1003_Fig1_HTML.jpg

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Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.通过红细胞输血进行的PNP缺乏症前期酶替代治疗。

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An unconditioned bone marrow transplantation in a child with purine nucleoside phosphorylase deficiency and its unique complication.一名患有嘌呤核苷磷酸化酶缺乏症儿童的非条件性骨髓移植及其独特并发症。

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Red cell metabolism in purine nucleoside phosphorylase deficiency after enzyme replacement therapy.酶替代疗法后嘌呤核苷磷酸化酶缺乏症中的红细胞代谢

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Purine nucleoside phosphorylase (PNP) deficiency: a therapeutic challenge.嘌呤核苷磷酸化酶（PNP）缺乏症：一项治疗挑战。

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At least 20% donor myeloid chimerism is necessary to reverse the sickle phenotype after allogeneic HSCT.异基因造血干细胞移植后，至少20%的供体髓系嵌合率对于逆转镰状细胞表型是必要的。

Blood. 2017 Oct 26;130(17):1946-1948. doi: 10.1182/blood-2017-03-772392. Epub 2017 Sep 8.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.采用串联质谱法对干血斑进行检测，诊断由嘌呤核苷磷酸化酶缺陷引起的免疫缺陷。

J Allergy Clin Immunol. 2014 Jul;134(1):155-9. doi: 10.1016/j.jaci.2014.01.040. Epub 2014 Apr 24.

Cross correction following haemopoietic stem cell transplant for purine nucleoside phosphorylase deficiency: engrafted donor-derived white blood cells provide enzyme to residual enzyme-deficient recipient cells.嘌呤核苷磷酸化酶缺乏症造血干细胞移植后的交叉校正：植入的供体来源白细胞为残留酶缺乏的受体细胞提供酶。

JIMD Rep. 2012;6:39-42. doi: 10.1007/8904_2012_126. Epub 2012 Mar 2.

Cerebellar abnormalities in purine nucleoside phosphorylase deficient mice.嘌呤核苷磷酸化酶缺乏小鼠的小脑异常。

Neurobiol Dis. 2012 Aug;47(2):201-9. doi: 10.1016/j.nbd.2012.04.001. Epub 2012 Apr 11.

Purine nucleoside phosphorylase deficiency (PNP-def) presenting with lymphopenia and developmental delay: successful correction with umbilical cord blood transplantation.表现为淋巴细胞减少和发育迟缓的嘌呤核苷磷酸化酶缺乏症（PNP缺乏症）：脐带血移植成功矫正

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Mitochondrial basis for immune deficiency. Evidence from purine nucleoside phosphorylase-deficient mice.免疫缺陷的线粒体基础。来自嘌呤核苷磷酸化酶缺陷小鼠的证据。

J Exp Med. 2000 Jun 19;191(12):2197-208. doi: 10.1084/jem.191.12.2197.

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Nihon Rinsho. 1996 Dec;54(12):3303-8.

Purine nucleoside phosphorylase deficiency: improved metabolic and immunologic function with erythrocyte transfusions.嘌呤核苷磷酸化酶缺乏症：红细胞输注改善代谢和免疫功能

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J Clin Invest. 1980 Jan;65(1):103-8. doi: 10.1172/JCI109639.

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Upfront Enzyme Replacement via Erythrocyte Transfusions for PNP Deficiency.

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