A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review

IntroductionHypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.Case presentationA teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent...

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Bibliographic Details
Main Authors: Xiaoqing Zhang, Wujun Jiang, Zhongqin Jin, Xueqian Wang, Xiaoxiang Song, Shan Huang, Min Zhang, Huigang Lu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Oncology
Subjects:
DCLRE1C
ARTEMIS
hypomorphic mutation
severe combined immunodeficiency
radiosensitive immunodeficiency
Online Access:https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/full

Internet

https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/full

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