PIK3CD基因中的一种新型种系功能获得性变异。 - Suppr

A novel germline gain-of-function variant in PIK3CD.

作者信息

Rae William, Gao Yifang, Ward Daniel, Mattocks Christopher J, Eren Efrem, Williams Anthony P

机构信息

Department of Immunology, University Hospital Southampton NHSFT, Southampton, UK; NIHR Wellcome Trust Clinical Research Facility Southampton, University Hospital Southampton NHSFT, University of Southampton, UK.

NIHR Cancer Research UK Experimental Cancer Medicine Centre, Southampton, UK; Wessex Investigational Science Hub Laboratory, University of Southampton, University Hospital Southampton NHSFT, Southampton, UK.

出版信息

Clin Immunol. 2017 Aug;181:29-31. doi: 10.1016/j.clim.2017.05.020. Epub 2017 May 31.

DOI:10.1016/j.clim.2017.05.020

PMID:28578023

Abstract

摘要

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相似文献

A novel germline gain-of-function variant in PIK3CD.

Clin Immunol. 2017 Aug;181:29-31. doi: 10.1016/j.clim.2017.05.020. Epub 2017 May 31.

Identification of a novel de novo gain-of-function mutation of PIK3CD in a patient with activated phosphoinositide 3-kinase δ syndrome.

Clin Immunol. 2018 Dec;197:60-67. doi: 10.1016/j.clim.2018.08.007. Epub 2018 Aug 20.

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Clin Exp Immunol. 2016 Feb;183(2):221-9. doi: 10.1111/cei.12706. Epub 2015 Nov 9.

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Proc Natl Acad Sci U S A. 2017 Feb 21;114(8):1982-1987. doi: 10.1073/pnas.1617244114. Epub 2017 Feb 6.

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J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

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J Allergy Clin Immunol. 2017 Oct;140(4):1152-1156.e10. doi: 10.1016/j.jaci.2017.03.026. Epub 2017 Apr 13.

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引用本文的文献

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Orphanet J Rare Dis. 2025 May 3;20(1):212. doi: 10.1186/s13023-025-03734-z.

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Adv Ther. 2025 Feb;42(2):752-771. doi: 10.1007/s12325-024-03066-7. Epub 2024 Dec 5.

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Pediatr Rheumatol Online J. 2024 Jan 29;22(1):24. doi: 10.1186/s12969-024-00955-7.

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Front Pediatr. 2021 Jun 25;9:652405. doi: 10.3389/fped.2021.652405. eCollection 2021.

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Pediatr Investig. 2019 Jan 8;2(4):257-262. doi: 10.1002/ped4.12101. eCollection 2018 Dec.

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A novel germline gain-of-function variant in PIK3CD.

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A novel germline gain-of-function variant in PIK3CD.

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