A sporadic case of CTLA4 haploinsufficiency manifesting as Epstein–Barr virus-positive diffuse large B-cell lymphoma
| Autor: | Toshio Kitawaki, Masakazu Fujimoto, Hepei Yuan, Hironori Haga, Akifumi Takaori-Kondo, Momoko Nishikori, Yasuyuki Otsuka, Masahiro Hirata, Hirokazu Kanegane, Chiyoko Ueda, Takahiro Yasumi |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Epstein-Barr Virus Infections
Herpesvirus 4 Human T cell diffuse large B-cell lymphoma chemical and pharmacologic phenomena medicine.disease_cause Epstein–Barr virus Immune system medicine Humans CTLA-4 Antigen CTLA4 business.industry CTLA4 Haploinsufficiency General Medicine medicine.disease Lymphoma haploinsufficiency medicine.anatomical_structure germline mutation Cancer research Female Immune disorder Lymphoma Large B-Cell Diffuse business Haploinsufficiency Diffuse large B-cell lymphoma |
| Zdroj: | Journal of Clinical and Experimental Hematopathology. 62(1):52-57 |
| ISSN: | 1346-4280 |
| Popis: | Cytotoxic T-lymphocyte-associated antigen 4 (CTLA4) is a coinhibitory receptor that plays an essential role in maintaining immune system homeostasis by suppressing T-cell activation. We report a sporadic case of CTLA4 haploinsufficiency in a patient with Epstein-Barr virus-positive diffuse large B-cell lymphoma and subsequent benign lymphadenopathy. A missense mutation in exon 2 of the CTLA4 gene (c.251T>C, p.V84A) was found in the patient's peripheral blood and buccal cell DNA, but not in her parents' DNA. CTLA4 expression decreased in the peripheral regulatory T cells upon stimulation, whereas CTLA4 and PD-1-positive T cell subsets increased, possibly to compensate for the defective CTLA4 function. This case suggests that some adult lymphoma patients with no remarkable medical history have primary immune disorder. As immune-targeted therapies are now widely used for the treatment of malignancies, it is increasingly important to recognize the underlying primary immune disorders to properly manage the disease and avoid unexpected complications of immunotherapies. |
| Databáze: | OpenAIRE |
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