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Probable Autoimmune Lymphoproliferative Syndrome with Monogenic Lupus Due to KRAS Mutation.

作者信息

Nayak Amiya, Gudapati Pratyusha, Tripathi Swapnil, Dass Jasmita, Aggarwal Mukul, Kumar Pradeep

机构信息

All India Institute of Medical Sciences, New Delhi. India.

出版信息

Mediterr J Hematol Infect Dis. 2024 Mar 1;16(1):e2024033. doi: 10.4084/MJHID.2024.033. eCollection 2024.

DOI:10.4084/MJHID.2024.033
PMID:38468833
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10927234/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f41/10927234/39f03327f637/mjhid-16-1-e2024033f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f41/10927234/39f03327f637/mjhid-16-1-e2024033f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0f41/10927234/39f03327f637/mjhid-16-1-e2024033f1.jpg

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本文引用的文献

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Genetic Predisposition to Hematologic Malignancies in Childhood and Adolescence.儿童和青少年血液系统恶性肿瘤的遗传易感性
Mediterr J Hematol Infect Dis. 2023 May 1;15(1):e2023032. doi: 10.4084/MJHID.2023.032. eCollection 2023.
2
KRAS mutation: from undruggable to druggable in cancer.KRAS 突变：从不可用药到癌症的可用药。
Signal Transduct Target Ther. 2021 Nov 15;6(1):386. doi: 10.1038/s41392-021-00780-4.
3
The challenge of early diagnosis of autoimmune lymphoproliferative syndrome in children with suspected autoinflammatory/autoimmune disorders.
儿童疑似炎症性/自身免疫性疾病中自身免疫性淋巴组织增生综合征的早期诊断挑战。
Rheumatology (Oxford). 2022 Feb 2;61(2):696-704. doi: 10.1093/rheumatology/keab361.
4
Clinical Spectrum of Ras-Associated Autoimmune Leukoproliferative Disorder (RALD).RAS相关自身免疫性白细胞增殖性疾病（RALD）的临床谱
J Clin Immunol. 2021 Jan;41(1):51-58. doi: 10.1007/s10875-020-00883-7. Epub 2020 Oct 4.
5
Monogenic Lupus: A Developing Paradigm of Disease.单基因狼疮：疾病发展的范例。
Front Immunol. 2018 Oct 30;9:2496. doi: 10.3389/fimmu.2018.02496. eCollection 2018.
6
The importance of considering monogenic causes of autoimmunity: A somatic mutation in KRAS causing pediatric Rosai-Dorfman syndrome and systemic lupus erythematosus.考虑自身免疫性单基因病因的重要性：KRAS基因的体细胞突变导致小儿罗萨伊-多夫曼综合征和系统性红斑狼疮。
Clin Immunol. 2017 Feb;175:143-146. doi: 10.1016/j.clim.2016.12.006. Epub 2016 Dec 31.
7
Monogenic defects in lymphocyte apoptosis.淋巴细胞凋亡的单基因缺陷。
Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):609-15. doi: 10.1097/ACI.0b013e3283588da0.
8
Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis.与人类非恶性自身免疫和异常白细胞稳态相关的体细胞 KRAS 突变。
Blood. 2011 Mar 10;117(10):2883-6. doi: 10.1182/blood-2010-07-295501. Epub 2010 Nov 15.
9
Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation.自身免疫性淋巴组织增生综合征样疾病伴体 KRAS 突变。
Blood. 2011 Mar 10;117(10):2887-90. doi: 10.1182/blood-2010-08-301515. Epub 2010 Nov 9.
10
Early disease onset is predicted by a higher genetic risk for lupus and is associated with a more severe phenotype in lupus patients.早期发病由狼疮的更高遗传风险预测，并与狼疮患者更严重的表型相关。
Ann Rheum Dis. 2011 Jan;70(1):151-6. doi: 10.1136/ard.2010.141697. Epub 2010 Sep 29.