Detection of c.755T>C; p.L265P/c.751C>T;p.264R/* compound heterozygous mutation in a case of Waldenstrom macroglobulinemia.
作者信息
Gautam Arambam, Kashyap Dharambir, Lad Deepesh, Bal Amanjit, Das Reena, Sreedharanunni Sreejesh
机构信息
Department of Hematology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012 India.
Department of Histopathology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, 160012 India.
出版信息
Indian J Hematol Blood Transfus. 2021 Oct;37(4):702-704. doi: 10.1007/s12288-021-01446-5. Epub 2021 May 20.
Abstract
摘要
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本文引用的文献
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A novel truncating mutation in MYD88 in a patient with BCG adenitis, neutropenia and delayed umbilical cord separation.一名患有卡介苗相关性淋巴结炎、中性粒细胞减少症和脐带延迟脱落患者的 MYD88 新型截短突变。
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A novel MYD88 mutation, L265RPP, in Waldenström macroglobulinemia activates the NF-κB pathway to upregulate Bcl-xL expression and enhances cell survival.华氏巨球蛋白血症中一种新的MYD88突变L265RPP激活NF-κB途径，上调Bcl-xL表达并增强细胞存活能力。
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MYD88 mutant lymphoplasmacytic lymphoma/Waldenström macroglobulinemia has distinct clinical and pathological features as compared to its mutation negative counterpart.与MYD88突变阴性的淋巴浆细胞淋巴瘤/华氏巨球蛋白血症相比，MYD88突变型淋巴浆细胞淋巴瘤/华氏巨球蛋白血症具有独特的临床和病理特征。
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Pyogenic bacterial infections in humans with MyD88 deficiency.患有髓样分化因子88（MyD88）缺陷的人类的化脓性细菌感染。
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