锡克
生物
低丙种球蛋白血症
免疫学
免疫系统
免疫缺陷
布鲁顿酪氨酸激酶
信号转导
恶性肿瘤
酪氨酸激酶
癌症研究
遗传学
抗体
出处
期刊:Nature Genetics
[Nature Portfolio]
日期:2021-03-29
卷期号:53 (4): 432-434
被引量:10
标识
DOI:10.1038/s41588-021-00837-8
摘要
Immune responses require a delicate balance: a weak response can cause immunodeficiency, whereas an excessive response can lead to hyperinflammatory disease and hematological malignancy. Because spleen tyrosine kinase has roles in multiple signaling pathways, its gain-of-function alterations in humans cause hypogammaglobulinemia as well as autoinflammation and predisposition to B cell lymphoma.
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