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

INTRODUCTION: Hypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication. CASE PRESENTATION: A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recu...

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Detalles Bibliográficos
Autores principales: Zhang, Xiaoqing, Jiang, Wujun, Jin, Zhongqin, Wang, Xueqian, Song, Xiaoxiang, Huang, Shan, Zhang, Min, Lu, Huigang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Oncology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10603229/
https://www.ncbi.nlm.nih.gov/pubmed/37901335
http://dx.doi.org/10.3389/fonc.2023.1282678

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10603229/
https://www.ncbi.nlm.nih.gov/pubmed/37901335
http://dx.doi.org/10.3389/fonc.2023.1282678

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