因新发单等位基因2q33.2 - 2q33.3缺失导致的完全性CTLA - 4单倍体不足的成功造血干细胞移植。 - Suppr | 超能文献

相似文献

1

Successful hematopoietic stem cell transplantation for complete CTLA-4 haploinsufficiency due to a de novo monoallelic 2q33.2-2q33.3 deletion.因新发单等位基因2q33.2 - 2q33.3缺失导致的完全性CTLA - 4单倍体不足的成功造血干细胞移植。

Clin Immunol. 2020 Nov;220:108589. doi: 10.1016/j.clim.2020.108589. Epub 2020 Sep 12.

2

A de novo monoallelic CTLA-4 deletion causing pediatric onset CVID with recurrent autoimmune cytopenias and severe enteropathy.一种导致小儿期发病的常见变异型免疫缺陷病并伴有复发性自身免疫性血细胞减少症和严重肠病的新生单等位基因CTLA-4缺失。

Clin Immunol. 2018 Dec;197:186-188. doi: 10.1016/j.clim.2018.10.007. Epub 2018 Oct 13.

3

Treatment of severe forms of LPS-responsive beige-like anchor protein deficiency with allogeneic hematopoietic stem cell transplantation.采用异基因造血干细胞移植治疗严重形式的脂多糖反应性米色样锚蛋白缺乏症。

J Allergy Clin Immunol. 2018 Feb;141(2):770-775.e1. doi: 10.1016/j.jaci.2017.04.023. Epub 2017 May 10.

4

CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease.LRBA 缺陷和无已知单基因疾病的常见可变免疫缺陷患者 CD4+ T 细胞中 CTLA-4 的表达

J Investig Allergol Clin Immunol. 2018 Dec;28(6):422-424. doi: 10.18176/jiaci.0302.

5

CTLA-4 polymorphism rs231775: Influence on relapse and survival after allogeneic hematopoietic stem cell transplantation in childhood.CTLA-4 多态性 rs231775：对儿童异基因造血干细胞移植后复发和生存的影响。

Eur J Haematol. 2019 Mar;102(3):251-255. doi: 10.1111/ejh.13200. Epub 2019 Jan 7.

6

Pretransplant donor and recipient CTLA-4 mRNA and protein levels as a prognostic marker for aGvHD in allogeneic hematopoietic stem cell transplantation.移植前供体和受体的细胞毒性T淋巴细胞相关抗原4（CTLA-4）mRNA和蛋白水平作为异基因造血干细胞移植中急性移植物抗宿主病（aGvHD）的预后标志物。

Immunol Lett. 2015 May;165(1):52-9. doi: 10.1016/j.imlet.2015.03.011. Epub 2015 Apr 1.

7

Hematopoietic stem cell transplantation for CTLA4 deficiency.针对CTLA4缺陷的造血干细胞移植

J Allergy Clin Immunol. 2016 Aug;138(2):615-619.e1. doi: 10.1016/j.jaci.2016.01.045. Epub 2016 Apr 18.

8

A CT60G>A polymorphism in the CTLA-4 gene of the recipient may confer susceptibility to acute graft versus host disease after allogeneic hematopoietic stem cell transplantation.受体CTLA-4基因中的CT60G>A多态性可能会使异基因造血干细胞移植后发生急性移植物抗宿主病的易感性增加。

Immunogenetics. 2015 Jun;67(5-6):295-304. doi: 10.1007/s00251-015-0840-7. Epub 2015 May 5.

9

Another patient with a de novo deletion further delineates the 2q33.1 microdeletion syndrome.另一位患有新发缺失的患者进一步明确了2q33.1微缺失综合征。

Eur J Med Genet. 2009 Mar-Jun;52(2-3):120-2. doi: 10.1016/j.ejmg.2009.01.002. Epub 2009 Jan 22.

10

Immune deficiency and autoimmunity in patients with CTLA-4 (CD152) mutations.携带CTLA-4（CD152）突变患者的免疫缺陷与自身免疫

Clin Exp Immunol. 2017 Oct;190(1):1-7. doi: 10.1111/cei.12997. Epub 2017 Jul 21.

引用本文的文献

1

The Applications of Machine Learning in the Management of Patients Undergoing Stem Cell Transplantation: Are We Ready?机器学习在接受干细胞移植患者管理中的应用：我们准备好了吗？

Cancers (Basel). 2025 Jan 25;17(3):395. doi: 10.3390/cancers17030395.

2

2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.2q33 缺失与综合征型和非综合征型 CTLA4 缺陷相关。

J Clin Immunol. 2024 Nov 23;45(1):46. doi: 10.1007/s10875-024-01831-5.

3

Too much of a good thing: a review of primary immune regulatory disorders.过犹不及：原发性免疫调节紊乱综述。