دورية أكاديمية
Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers.
| العنوان: | Increased Risk for Malignancies in 131 Affected CTLA4 Mutation Carriers. |
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| المؤلفون: | Egg, David, Schwab, Charlotte, Gabrysch, Annemarie, Arkwright, Peter D, Cheesman, Edmund, Giulino-Roth, Lisa, Neth, Olaf, Snapper, Scott, Okada, Satoshi, Moutschen, Michel, Delvenne, Philippe, Pecher, Ann-Christin, Wolff, Daniel, Kim, Yae-Jean, Seneviratne, Suranjith, Kim, Kyoung-Mee, Kang, Ji-Man, Ojaimi, Samar, McLean, Catriona, Warnatz, Klaus, Seidl, Maximilian, Grimbacher, Bodo |
| سنة النشر: | 2018 |
| المجموعة: | Sistema Sanitario Público de Andalucía (SSPA): Repositorio |
| مصطلحات موضوعية: | CMV, CTLA4, EBV, cancer predisposition, combined immunodeficiency, malignancy, primary immunodeficiency, Adenocarcinoma, Adolescent, Adult, Aged, CTLA-4 Antigen, Cohort Studies, Epstein-Barr Virus Infections, Female, Herpesvirus 4, Human, Humans, Lymphoma, Male, Middle Aged, Mutation, Prevalence, Risk, Stomach Neoplasms, Young Adult |
| الوصف: | Background: Cytotoxic T-lymphocyte-associated antigen 4 (CTLA-4) is a negative immune regulator on the surface of T cells. In humans, heterozygous germline mutations in CTLA4 can cause an immune dysregulation syndrome. The phenotype comprises a broad spectrum of autoinflammatory, autoimmune, and immunodeficient features. An increased frequency of malignancies in primary immunodeficiencies is known, but their incidence in CTLA-4 insufficiency is unknown. Methods: Clinical manifestations and details of the clinical history were assessed in a worldwide cohort of 184 CTLA4 mutation carriers. Whenever a malignancy was reported, a malignancy-specific questionnaire was filled. Results: Among the 184 CTLA4 mutation carriers, 131 were considered affected, indicating a penetrance of 71.2%. We documented 17 malignancies, which amounts to a cancer prevalence of 12.9% in affected CTLA4 mutation carriers. There were ten lymphomas, five gastric cancers, one multiple myeloma, and one metastatic melanoma. Seven lymphomas and three gastric cancers were EBV-associated. Conclusion: Our findings demonstrate an elevated cancer risk for patients with CTLA-4 insufficiency. As more than half of the cancers were EBV-associated, the failure to control oncogenic viruses seems to be part of the CTLA-4-insufficient phenotype. Hence, lymphoproliferation and EBV viral load in blood should be carefully monitored, especially when immunosuppressing affected CTLA4 mutation carriers. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1664-3224 |
| العلاقة: | http://hdl.handle.net/10668/12992Test; PMC6140401; https://www.frontiersin.org/articles/10.3389/fimmu.2018.02012/pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140401/pdfTest |
| DOI: | 10.3389/fimmu.2018.02012 |
| DOI: | 10.3389/fimmu.2018.02012/pdf |
| الإتاحة: | https://doi.org/10.3389/fimmu.2018.02012Test http://hdl.handle.net/10668/12992Test https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6140401/pdfTest |
| حقوق: | Attribution 4.0 International ; http://creativecommons.org/licenses/by/4.0Test/ ; open access |
| رقم الانضمام: | edsbas.567BF753 |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 16643224 |
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| DOI: | 10.3389/fimmu.2018.02012 |