茶碱作为一名患有PIK3R1免疫缺陷的年轻女孩的精准治疗方法。 - Suppr

Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.

作者信息

Valencic Erica, Grasso Antonio Giacomo, Conversano Ester, Lucafò Marianna, Piscianz Elisa, Gregori Massimo, Conti Francesca, Cancrini Caterina, Tommasini Alberto

机构信息

Department of Pediatrics, Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", Trieste, Italy.

Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.

出版信息

J Allergy Clin Immunol Pract. 2018 Nov-Dec;6(6):2165-2167. doi: 10.1016/j.jaip.2018.02.029. Epub 2018 Mar 3.

DOI:10.1016/j.jaip.2018.02.029

PMID:29510232

Abstract

摘要

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Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.茶碱作为一名患有PIK3R1免疫缺陷的年轻女孩的精准治疗方法。

J Allergy Clin Immunol Pract. 2018 Nov-Dec;6(6):2165-2167. doi: 10.1016/j.jaip.2018.02.029. Epub 2018 Mar 3.

Theophylline for chronic obstructive pulmonary disease?....Time to move on.

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Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.PIK3R1 杂合剪接突变导致人类免疫缺陷伴淋巴组织增生，原因是 PI3K 的显性激活。

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Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in and .通过[具体基因1]和[具体基因2]中的免疫缺陷突变对PI3Kδ调节的构象破坏。

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Mutations in PIK3R1 can lead to APDS2, SHORT syndrome or a combination of the two.PIK3R1 突变可导致 APDS2、SHORT 综合征或两者的组合。

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[Theophylline and selective phosphodiesterase inhibitor in therapy of obstructive respiratory tract diseases].[茶碱与选择性磷酸二酯酶抑制剂在阻塞性呼吸道疾病治疗中的应用]

Pneumologie. 1997 Mar;51(3):303-16.

[Immediate results of treatment of psoriasis with phosphodiesterase inhibitors].[磷酸二酯酶抑制剂治疗银屑病的即时疗效]

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Theophylline as a precision therapy in a young girl with PIK3R1 immunodeficiency.

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