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Artificial thymic organoids represent a reliable tool to study T-cell differentiation in patients with severe T-cell lymphopenia.人工胸腺类器官是研究严重 T 细胞免疫缺陷患者 T 细胞分化的可靠工具。
Blood Adv. 2020 Jun 23;4(12):2611-2616. doi: 10.1182/bloodadvances.2020001730.
2
Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1.由 DNA 聚合酶 δ 1 功能丧失突变引起的联合免疫缺陷。
J Allergy Clin Immunol. 2020 Jan;145(1):391-401.e8. doi: 10.1016/j.jaci.2019.10.004. Epub 2019 Oct 16.
3
DNA Polymerase Delta Synthesizes Both Strands during Break-Induced Replication.DNA 聚合酶 δ 在断裂诱导复制过程中合成两条链。
Mol Cell. 2019 Nov 7;76(3):371-381.e4. doi: 10.1016/j.molcel.2019.07.033. Epub 2019 Sep 5.
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Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress.聚合酶 δ 缺乏导致伴有复制应激的综合征性免疫缺陷。
J Clin Invest. 2019 Oct 1;129(10):4194-4206. doi: 10.1172/JCI128903.
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PROMIDISα: A T-cell receptor α signature associated with immunodeficiencies caused by V(D)J recombination defects.PROMIDISα：与 V(D)J 重组缺陷引起的免疫缺陷相关的 T 细胞受体 α 特征。
J Allergy Clin Immunol. 2019 Jan;143(1):325-334.e2. doi: 10.1016/j.jaci.2018.05.028. Epub 2018 Jun 12.
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Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies.利用 DNA、RNA、蛋白质和功能方法解决隐匿性免疫缺陷。
J Clin Immunol. 2018 Apr;38(3):307-319. doi: 10.1007/s10875-018-0499-6. Epub 2018 Apr 18.
7
Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).外显子组测序揭示了一种新发的POLD1突变，该突变导致下颌骨发育不全、耳聋、早老样特征和脂肪营养不良综合征（MDPL）的表型变异。
Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.
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Eukaryotic DNA polymerases require an iron-sulfur cluster for the formation of active complexes.真核生物 DNA 聚合酶需要铁硫簇来形成活性复合物。
Nat Chem Biol. 2011 Nov 27;8(1):125-32. doi: 10.1038/nchembio.721.
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DNA Repair (Amst). 2010 Oct 5;9(10):1098-111. doi: 10.1016/j.dnarep.2010.07.013. Epub 2010 Sep 1.
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POLD1 Deficiency Reveals a Role for POLD1 in DNA Repair and T and B Cell Development.

作者信息

Nichols-Vinueza Diana X, Delmonte Ottavia M, Bundy Vanessa, Bosticardo Marita, Zimmermann Michael T, Dsouza Nikita R, Pala Francesca, Dobbs Kerry, Stoddard Jennifer, Niemela Julie E, Kuehn Hye Sun, Keller Michael D, Rueda Cesar M, Abraham Roshini S, Urrutia Raul, Rosenzweig Sergio D, Notarangelo Luigi D

机构信息

Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Building 10, Room 5-3950, 10 Center Dr, Bethesda, MD, 20892, USA.

Division of Allergy and Immunology, Children's National Hospital, Washington, D.C, USA.

出版信息

J Clin Immunol. 2021 Jan;41(1):270-273. doi: 10.1007/s10875-020-00903-6. Epub 2020 Nov 2.

DOI:10.1007/s10875-020-00903-6
PMID:33140240
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8319811/
Abstract
摘要