A novel splice donor mutation in DCLRE1C caused atypical severe combined immunodeficiency in a patient with colon lymphoma: case report and literature review.
| Autor: | Zhang X; Department of Medicine, Children's Hospital of Soochow University, Suzhou, China., Jiang W; Department of Medicine, Children's Hospital of Soochow University, Suzhou, China., Jin Z; Department of Medicine, Children's Hospital of Soochow University, Suzhou, China., Wang X; Department of Prenatal Screening and Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, China., Song X; Department of Clinical Immunology, Children's Hospital of Soochow University, Suzhou, China., Huang S; Department of Pathology, First Affiliated Hospital of Soochow University, Suzhou, China., Zhang M; Department of Pathology, Children's Hospital of Soochow University, Suzhou, China., Lu H; Department of Medicine, Children's Hospital of Soochow University, Suzhou, China. |
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| Jazyk: | angličtina |
| Zdroj: | Frontiers in oncology [Front Oncol] 2023 Oct 12; Vol. 13, pp. 1282678. Date of Electronic Publication: 2023 Oct 12 (Print Publication: 2023). |
| DOI: | 10.3389/fonc.2023.1282678 |
| Abstrakt: | 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 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. Conclusion: Recognizing the radiosensitivity of the disease is critical for the prognosis. Hematopoietic stem cell transplantation before being infected with EBV is an optimal treatment. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2023 Zhang, Jiang, Jin, Wang, Song, Huang, Zhang and Lu.) |
| Databáze: | MEDLINE |
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