Clinical and Genetic Characterization of Patients with Artemis Deficiency in Japan
Author:
Funder
MEXT/JSPS KAKENHI
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-022-01405-3.pdf
Reference26 articles.
1. Miyamoto S, Umeda K, Kurata M, Nishimura A, Yanagimachi M, Ishimura M, et al. Hematopoietic cell transplantation for severe combined immunodeficiency patients: a Japanese retrospective study. J Clin Immunol. 2021;41:1865–77.
2. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, et al. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014;312:729–38.
3. Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA, et al. Newborn screening for severe combined immunodeficiency and T-cell Lymphopenia in California, 2010–2017. Pediatrics. 2019;143:e20182300.
4. Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. Human inborn errors of immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2022. https://doi.org/10.1007/s10875-022-01289-3.
5. Moshous D, Callebaut I, de Chasseval R, Corneo B, Cavazzana-Calvo M, Le Deist F, et al. Artemis, a novel DNA double-strand break repair/V(D)J recombination protein, is mutated in human severe combined immune deficiency. Cell. 2001;105:177–86.
Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. Case report: Artemis deficiency and 3M syndrome—coexistence of two distinct genetic disorders;Frontiers in Pediatrics;2023-07-13
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