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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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-10-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/full |
| _version_ | 1797660842832953344 |
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| author | Xiaoqing Zhang Wujun Jiang Zhongqin Jin Xueqian Wang Xiaoxiang Song Shan Huang Min Zhang Huigang Lu |
| author_facet | Xiaoqing Zhang Wujun Jiang Zhongqin Jin Xueqian Wang Xiaoxiang Song Shan Huang Min Zhang Huigang Lu |
| author_sort | Xiaoqing Zhang |
| collection | DOAJ |
| description | 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 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.ConclusionRecognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment. |
| first_indexed | 2024-03-11T18:35:42Z |
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| institution | Directory Open Access Journal |
| issn | 2234-943X |
| language | English |
| last_indexed | 2024-03-11T18:35:42Z |
| publishDate | 2023-10-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj.art-415d251f7bf1407982bfb8529b65751d2023-10-12T22:36:36ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2023-10-011310.3389/fonc.2023.12826781282678A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature reviewXiaoqing Zhang0Wujun Jiang1Zhongqin Jin2Xueqian Wang3Xiaoxiang Song4Shan Huang5Min Zhang6Huigang Lu7Department of Medicine, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Medicine, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Medicine, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Prenatal Screening and Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, ChinaDepartment of Clinical Immunology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Pathology, First Affiliated Hospital of Soochow University, Suzhou, ChinaDepartment of Pathology, Children’s Hospital of Soochow University, Suzhou, ChinaDepartment of Medicine, Children’s Hospital of Soochow University, Suzhou, ChinaIntroductionHypomorphic 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 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.ConclusionRecognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment.https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/fullDCLRE1CARTEMIShypomorphic mutationsevere combined immunodeficiencyradiosensitive immunodeficiency |
| spellingShingle | Xiaoqing Zhang Wujun Jiang Zhongqin Jin Xueqian Wang Xiaoxiang Song Shan Huang Min Zhang Huigang Lu A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review Frontiers in Oncology DCLRE1C ARTEMIS hypomorphic mutation severe combined immunodeficiency radiosensitive immunodeficiency |
| title | A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review |
| title_full | A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review |
| title_fullStr | A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review |
| title_full_unstemmed | A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review |
| title_short | A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review |
| title_sort | novel splice donor mutation in dclre1c caused atypical severe combined immunodeficiency in a patient with colon lymphoma case report and literature review |
| topic | DCLRE1C ARTEMIS hypomorphic mutation severe combined immunodeficiency radiosensitive immunodeficiency |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2023.1282678/full |
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