免疫学和血液学发现作为患有新生殖系致病性CBL变异的患者的主要特征
Emilia Stellacci1, Jennefer N Carter2,3, Luca Pannone4
1Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
American journal of medical genetics. Part A
|April 13, 2024
概括
在患有发育迟缓和血液学问题的患者中发现了一种新的卡西塔斯B系淋巴瘤 (CBL) 基因变异. 这一发现将CBL变体与免疫和血液疾病联系起来,扩大已知的RASopathy表型.
科学领域:
- 遗传学 遗传学 是一个
- 在瘤学瘤学.
- 发展生物学 发展生物学
背景情况:
- 卡西塔斯B系淋巴瘤 (CBL) 是一种适应蛋白,对于调节受体氨酸激酶下游的细胞内信号传递至关重要.
- 阴性CBL突变是癌症的驱动因素,特别是髓质恶性瘤.
- 胚性CBL缺陷会导致像努南综合征这样的RAS病变,与青少年骨髓 mononcytic白血病和血管炎有关.
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