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Somatic CBL mutation presenting as juvenile myelomonocytic leukemia with vasculitis.

作者信息

Mishra Varsha, Krishnan V P, Desai Mukesh, Manek Hirva, Pandrowala Ambreen, Bodhanwala Minnie, Hiwarkar Prashant

机构信息

Department of Blood and Marrow Transplantation, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

Department of Inborn errors of Immunity, Bai Jerbai Wadia Hospital for Children, Mumbai, India.

出版信息

Pediatr Blood Cancer. 2023 Jun;70(6):e30252. doi: 10.1002/pbc.30252. Epub 2023 Feb 14.

DOI:10.1002/pbc.30252
PMID:36786373
Abstract
摘要

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Mutations of an E3 ubiquitin ligase c-Cbl but not TET2 mutations are pathogenic in juvenile myelomonocytic leukemia.E3 泛素连接酶 c-Cbl 的突变而非 TET2 突变是青少年骨髓单核细胞白血病的致病因素。
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Mutations in CBL occur frequently in juvenile myelomonocytic leukemia.CBL基因的突变在青少年骨髓单核细胞白血病中频繁发生。
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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia.胚系 CBL 突变导致发育异常,并易患青少年骨髓单核细胞白血病。
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Autoinflammation in patients with leukocytic CBL loss of heterozygosity is caused by constitutive ERK-mediated monocyte activation.白细胞 CBL 杂合性缺失患者的自身炎症是由组成性 ERK 介导的单核细胞激活引起的。
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