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Novel PIK3CD mutations affecting N-terminal residues of p110δ cause activated PI3Kδ syndrome (APDS) in humans.

作者信息

Takeda Andrew J, Zhang Yu, Dornan Gillian L, Siempelkamp Braden D, Jenkins Meredith L, Matthews Helen F, McElwee Joshua J, Bi Weimin, Seeborg Filiz O, Su Helen C, Burke John E, Lucas Carrie L

机构信息

Department of Immunobiology, Yale University School of Medicine, New Haven, Conn.

Human Immunological Diseases Section, Laboratory of Host Defense and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.

出版信息

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

DOI:10.1016/j.jaci.2017.03.026
PMID:28414062
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5632585/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fa1/5632585/c085a3fd83b1/nihms876405f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fa1/5632585/c085a3fd83b1/nihms876405f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1fa1/5632585/c085a3fd83b1/nihms876405f1.jpg

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Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment.

本文引用的文献

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PI3Kδ and primary immunodeficiencies.磷脂酰肌醇-3激酶δ与原发性免疫缺陷
Nat Rev Immunol. 2016 Nov;16(11):702-714. doi: 10.1038/nri.2016.93. Epub 2016 Sep 12.
2
Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.活化磷脂酰肌醇3-激酶δ综合征的临床谱和特征：一项大型患者队列研究。
J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.
3
Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K.
活化的磷酸肌醇 3-激酶（PI3Kδ）综合征：意大利在诊断和治疗新进展方面的观点。
Ital J Pediatr. 2024 May 20;50(1):103. doi: 10.1186/s13052-024-01662-5.
4
Activated phosphoinositide 3-kinase δ syndrome caused by PIK3CD mutations: expanding the phenotype.PIK3CD 突变导致的活化磷酯酰肌醇 3-激酶 δ 综合征：扩展表型。
Pediatr Rheumatol Online J. 2024 Jan 29;22(1):24. doi: 10.1186/s12969-024-00955-7.
5
Systematic review of mortality and survival rates for APDS.APDS 死亡率和生存率的系统评价。
Clin Exp Med. 2024 Jan 27;24(1):17. doi: 10.1007/s10238-023-01259-y.
6
Rescuing the cytolytic function of APDS1 patient T cells via TALEN-mediated PIK3CD gene correction.通过TALEN介导的PIK3CD基因校正挽救APDS1患者T细胞的细胞溶解功能。
Mol Ther Methods Clin Dev. 2023 Oct 10;31:101133. doi: 10.1016/j.omtm.2023.101133. eCollection 2023 Dec 14.
7
PI3Kδ Pathway Dysregulation and Unique Features of Its Inhibition by Leniolisib in Activated PI3Kδ Syndrome and Beyond.PI3Kδ 通路失调及 Leniolisib 对其的抑制作用在活化的 PI3Kδ 综合征及其他疾病中的独特特征。
J Allergy Clin Immunol Pract. 2024 Jan;12(1):69-78. doi: 10.1016/j.jaip.2023.09.016. Epub 2023 Sep 28.
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Allergy Asthma Clin Immunol. 2023 Sep 23;19(1):86. doi: 10.1186/s13223-023-00840-0.
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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。
J Exp Med. 2014 Dec 15;211(13):2537-47. doi: 10.1084/jem.20141759. Epub 2014 Dec 8.
4
A human immunodeficiency caused by mutations in the PIK3R1 gene.由PIK3R1基因突变引起的人类免疫缺陷。
J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18.
5
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency.编码 PI(3)K 催化亚基 p110δ 的基因中的显性激活种系突变导致 T 细胞衰老和人类免疫缺陷。
Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771. Epub 2013 Oct 28.
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Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.磷酸肌醇 3-激酶 δ 基因突变易导致呼吸道感染和气道损伤。
Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.
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Oncogenic mutations mimic and enhance dynamic events in the natural activation of phosphoinositide 3-kinase p110α (PIK3CA).致癌突变模拟并增强了磷酸肌醇 3-激酶 p110α（PIK3CA）自然激活中的动态事件。
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8
Dynamics of the phosphoinositide 3-kinase p110δ interaction with p85α and membranes reveals aspects of regulation distinct from p110α.磷酸肌醇 3-激酶 p110δ 与 p85α 和膜的相互作用动力学揭示了与 p110α 不同的调节方面。
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Phosphatidylinositol 3-kinase-δ inhibitor CAL-101 shows promising preclinical activity in chronic lymphocytic leukemia by antagonizing intrinsic and extrinsic cellular survival signals.磷酸肌醇 3-激酶-δ 抑制剂 CAL-101 通过拮抗内在和外在细胞存活信号在慢性淋巴细胞白血病中显示出有前景的临床前活性。
Blood. 2010 Sep 23;116(12):2078-88. doi: 10.1182/blood-2010-02-271171. Epub 2010 Jun 3.