DCLRE1C 的亚形性突变会导致非典型严重联合免疫缺陷 (SCID)，而 Epstein-Barr 病毒 (EBV) 相关结肠淋巴瘤是一种罕见的并发症。一名十几岁的男孩患有结肠 EBV 相关结肠淋巴瘤、足底疣，并且有反复肺炎。他的外周血淋巴细胞计数和血清免疫球蛋白 (Ig) G 水平正常，但表现出 TB-NK 免疫表型。通过全外显子组测序进行的遗传分析揭示了 DCLRE1C (NM_001033855.3) 的复合杂合突变，包括内含子 1 中的新父本剪接供体突变 (c.109  2T>C) 和母本 c.1147C>T (p.R383X) 13号外显子无义突变。根据他的临床特征和遗传学结果，确立了非典型SCID合并结肠淋巴瘤的诊断。我们的综述显示，包括我们的患者在内的 7 名患者已被报道患有淋巴瘤，所有患者都患有 DCLRE1C 亚形突变。在这些病例中，6 例患有 EBV 相关 B 细胞谱系淋巴瘤，1 例患有伴有 EBV 再激活的霍奇金淋巴瘤。不幸的是，所有患者均死亡。认识到该疾病的放射敏感性对于预后至关重要。在感染 EBV 之前进行造血干细胞移植是最佳治疗方法。版权所有 © 2023 张、江、金、王、宋、黄、张和陆。

Hypomorphic mutations of DCLRE1C cause an atypical severe combined immunodeficiency (SCID), and Epstein-Barr virus (EBV)-related colon lymphoma is a rare complication.A teenage boy presented with colon EBV-related colon lymphoma, plantar warts, and a history of recurrent pneumonia. His peripheral blood lymphocyte count and serum level of immunoglobulin (Ig) G were normal, but he exhibited a T+B-NK+ immunophenotype. Genetic analysis by whole exome sequencing revealed compound heterozygous mutations of DCLRE1C (NM_001033855.3), including a novel paternal splicing donor mutation (c.109 + 2T>C) in intron 1, and a maternal c.1147C>T (p.R383X) nonsense mutation in exon 13. Based on his clinical features and genetic results, the diagnosis of atypical SCID with colon lymphoma was established. Our review shows that seven patients, including our patient, have been reported to develop lymphoma, all with hypomorphic DCLRE1C mutations. Among these cases, six had EBV-related B-cell lineage lymphoma, and one had Hodgkin lymphoma with EBV reactivation. Unfortunately, all of the patients died.Recognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.Copyright © 2023 Zhang, Jiang, Jin, Wang, Song, Huang, Zhang and Lu.