Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.
作者信息
Ben-Yakov Gil, Kapuria Devika, Marko Jamie, Cho Min Ho, Pittaluga Stefania, Kleiner David Erwin, Koh Christopher, Holland Steven, Uzel Gulbu, Heller Theo
机构信息
Translational Hepatology Section, Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.
Translational Hepatology Section, Liver Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Md.
出版信息
J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1763-1765. doi: 10.1016/j.jaip.2018.01.005. Epub 2018 Feb 16.
Abstract
摘要
相似文献
1
Liver disturbances in activated phosphoinositide 3-kinase δ syndrome.活化磷脂酰肌醇3激酶δ综合征中的肝脏紊乱
J Allergy Clin Immunol Pract. 2018 Sep-Oct;6(5):1763-1765. doi: 10.1016/j.jaip.2018.01.005. Epub 2018 Feb 16.
2
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.激活的磷酸肌醇 3-激酶 δ 综合征 2 相关的临床和免疫表型：一项队列研究。
J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21.
3
Immunodeficiency due to a novel variant in PIK3CD: a case report.由于 PIK3CD 中的新型变异导致的免疫缺陷：病例报告。
Pediatr Rheumatol Online J. 2023 Jul 20;21(1):71. doi: 10.1186/s12969-023-00859-y.
4
Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency.由磷酸肌醇3-激酶δ缺乏引起的原发性免疫缺陷病。
J Allergy Clin Immunol. 2018 Nov;142(5):1650-1653.e2. doi: 10.1016/j.jaci.2018.06.039. Epub 2018 Jul 21.
5
Modulating the PI3K Signalling Pathway in Activated PI3K Delta Syndrome: a Clinical Perspective.调节激活的 PI3Kδ 综合征中的 PI3K 信号通路：临床视角。
J Clin Immunol. 2023 Dec 27;44(1):34. doi: 10.1007/s10875-023-01626-0.
6
Activated PI3 Kinase Delta Syndrome: From Genetics to Therapy.活化的 PI3Kδ 综合征：从遗传学治疗。
Front Immunol. 2018 Feb 27;9:369. doi: 10.3389/fimmu.2018.00369. eCollection 2018.
7
Successful haploidentical hematopoietic stem cell transplantation for activated phosphoinositide 3-kinase δ syndrome: Case report and literature review.活化磷脂酰肌醇 3-激酶 δ 综合征的成功单倍体造血干细胞移植：病例报告及文献复习。
Medicine (Baltimore). 2023 Feb 3;102(5):e32816. doi: 10.1097/MD.0000000000032816.
8
Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome.活化的磷酯酰肌醇 3-激酶 δ 综合征的呼吸表现。
Front Immunol. 2018 Mar 5;9:338. doi: 10.3389/fimmu.2018.00338. eCollection 2018.
9
Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.活化磷脂酰肌醇3-激酶δ综合征患者中B细胞淋巴瘤的发生情况。
J Allergy Clin Immunol. 2014 Jul;134(1):233-6. doi: 10.1016/j.jaci.2014.02.020. Epub 2014 Apr 1.
10
Clinical Manifestations and Outcomes of Activated Phosphoinositide 3-Kinase δ Syndrome from the USIDNET Cohort.美国 IDNET 队列中活化的磷酸肌醇 3-激酶 δ 综合征的临床表现和结局。
J Allergy Clin Immunol Pract. 2021 Nov;9(11):4095-4102. doi: 10.1016/j.jaip.2021.07.044. Epub 2021 Aug 2.
引用本文的文献
1
Genetic Etiologies and Outcomes in Malignancy and Mortality in Activated Phosphoinositide 3-Kinase Delta Syndrome: A Systematic Review.活化磷脂酰肌醇3-激酶δ综合征的遗传病因与恶性肿瘤及死亡率的结局：一项系统综述
Adv Ther. 2025 Feb;42(2):752-771. doi: 10.1007/s12325-024-03066-7. Epub 2024 Dec 5.
2
Portal hypertension in common variable immunodeficiency disorders - a single center analysis on clinical and immunological parameter in 196 patients.普通变异性免疫缺陷病相关门静脉高压症 - 196 例患者的临床和免疫学参数的单中心分析。
Front Immunol. 2023 Dec 20;14:1268207. doi: 10.3389/fimmu.2023.1268207. eCollection 2023.
3
Organ-based clues for diagnosis of inborn errors of immunity: A practical guide for clinicians.基于器官的免疫缺陷病诊断线索：临床医生实用指南。
Immun Inflamm Dis. 2023 Apr;11(4):e833. doi: 10.1002/iid3.833.
4
A randomized, placebo-controlled phase 3 trial of the PI3Kδ inhibitor leniolisib for activated PI3Kδ syndrome.一项针对激活的 PI3Kδ 综合征的 PI3Kδ 抑制剂 leniolisib 的随机、安慰剂对照 3 期试验。
Blood. 2023 Mar 2;141(9):971-983. doi: 10.1182/blood.2022018546.
5
Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta Syndromes.与PI3Kδ过度激活相关的疾病：活化磷脂酰肌醇-3激酶δ综合征的临床和免疫学特征
Front Pediatr. 2021 Aug 5;9:702872. doi: 10.3389/fped.2021.702872. eCollection 2021.
6
Nodular regenerative hyperplasia in X-linked agammaglobulinemia: An underestimated and severe complication.X 连锁无丙种球蛋白血症中的结节性再生性增生：一种被低估的严重并发症。
J Allergy Clin Immunol. 2022 Jan;149(1):400-409.e3. doi: 10.1016/j.jaci.2021.05.028. Epub 2021 Jun 1.
7
GIMAP5 maintains liver endothelial cell homeostasis and prevents portal hypertension.GIMAP5 维持肝内皮细胞稳态并预防门静脉高压。
J Exp Med. 2021 Jul 5;218(7). doi: 10.1084/jem.20201745. Epub 2021 May 6.
8
Undiagnosed liver diseases.未确诊的肝脏疾病。
Transl Gastroenterol Hepatol. 2021 Apr 5;6:28. doi: 10.21037/tgh.2020.04.04. eCollection 2021.
9
Heterogeneity of Liver Disease in Common Variable Immunodeficiency Disorders.常见可变免疫缺陷疾病中的肝脏疾病异质性。
Front Immunol. 2020 Feb 28;11:338. doi: 10.3389/fimmu.2020.00338. eCollection 2020.
10
The Spectrum of Hepatic Involvement in Patients With Telomere Disease.端粒病患者肝脏受累的范围。
Hepatology. 2019 Jun;69(6):2579-2585. doi: 10.1002/hep.30578. Epub 2019 Apr 10.
本文引用的文献
1
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
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency.在669例原发性免疫缺陷患者队列中发现激活PI3Kδ突变。
Clin Exp Immunol. 2016 Feb;183(2):221-9. doi: 10.1111/cei.12706. Epub 2015 Nov 9.
4
Roles for PI3K/AKT/PTEN Pathway in Cell Signaling of Nonalcoholic Fatty Liver Disease.PI3K/AKT/PTEN信号通路在非酒精性脂肪性肝病细胞信号转导中的作用
ISRN Endocrinol. 2013;2013:472432. doi: 10.1155/2013/472432. Epub 2013 Jan 30.
5
Nodular regenerative hyperplasia in common variable immunodeficiency.结节性再生性增生症在普通变异性免疫缺陷病中的表现。
J Clin Immunol. 2013 May;33(4):748-58. doi: 10.1007/s10875-013-9873-6. Epub 2013 Feb 19.
6
Abnormal liver function in common variable immunodeficiency disorders due to nodular regenerative hyperplasia.结节性再生性增生导致的常见可变免疫缺陷病中的肝功能异常。
Clin Exp Immunol. 2008 Sep;153(3):331-7. doi: 10.1111/j.1365-2249.2008.03711.x. Epub 2008 Jul 18.
7
Nodular regenerative hyperplasia: the main liver disease in patients with primary hypogammaglobulinemia and hepatic abnormalities.结节性再生性增生：原发性低丙种球蛋白血症和肝脏异常患者的主要肝脏疾病。
J Hepatol. 2008 Jan;48(1):74-82. doi: 10.1016/j.jhep.2007.08.011. Epub 2007 Oct 17.
8
Hepatic abnormalities in patients with chronic granulomatous disease.慢性肉芽肿病患者的肝脏异常。
Hepatology. 2007 Mar;45(3):675-83. doi: 10.1002/hep.21524.
9
Nodular regenerative hyperplasia and severe portal hypertension in cystinosis.胱氨酸病中的结节性再生性增生与严重门静脉高压症
Clin Gastroenterol Hepatol. 2006 Mar;4(3):387-94. doi: 10.1016/j.cgh.2005.12.013.
Zotero 插件