Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.
作者信息
Jiang Debbie, Sampino Emily Vistica, Rosenlind Kira, Campagna Dean R, DiTroia Stephanie, Fleming Mark D, Keel Siobán B
机构信息
Division of Hematology, Massachusetts General Hospital, Boston, Massachusetts, USA.
Center for Cancer and Blood Disorders, Connecticut Children's Medical Center, Hartford, Connecticut, USA.
出版信息
Am J Hematol. 2025 May;100(5):941-943. doi: 10.1002/ajh.27649. Epub 2025 Mar 7.
Abstract
摘要
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本文引用的文献
1
Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.严重联合免疫缺陷症源于 DNA 连接酶 1 纯合突变，该突变降低了酶的催化活性，但增加了连接的保真度。
J Clin Immunol. 2024 Jun 19;44(7):151. doi: 10.1007/s10875-024-01754-1.
2
Case report: Severe combined immunodeficiency with ligase 1 deficiency and Omenn-like manifestation.病例报告：伴有连接酶 1 缺陷和类 Omenn 表现的严重联合免疫缺陷。
Front Immunol. 2022 Oct 19;13:1033338. doi: 10.3389/fimmu.2022.1033338. eCollection 2022.
3
seqr: A web-based analysis and collaboration tool for rare disease genomics.seqr：一个用于罕见病基因组学的基于网络的分析和协作工具。
Hum Mutat. 2022 Jun;43(6):698-707. doi: 10.1002/humu.24366. Epub 2022 Mar 21.
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Altered DNA ligase activity in human disease.人类疾病中改变的 DNA 连接酶活性。
Mutagenesis. 2020 Feb 13;35(1):51-60. doi: 10.1093/mutage/gez026.
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The molecular genetics of sideroblastic anemia.铁幼粒细胞性贫血的分子遗传学。
Blood. 2019 Jan 3;133(1):59-69. doi: 10.1182/blood-2018-08-815951. Epub 2018 Nov 6.
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Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies.DNA 连接酶 1 的双等位基因突变导致一系列免疫缺陷。
J Clin Invest. 2018 Dec 3;128(12):5489-5504. doi: 10.1172/JCI99629. Epub 2018 Nov 5.
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