ArticleJournal of clinical immunology2026
First Case of TAP1 Deficiency with EBV B-Cell Lymphoma Treated with Cellular Immunotherapy.
Article in Journal of clinical immunology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
purposeMutations in TAP1 represent one cause of Bare Lymphocyte Syndrome (BLS) type I, characterized by impaired human leukocyte antigen (HLA) class I expression and increased susceptibility to infections. EBV-driven lymphomas are rarely reported in BLS patients. Here, we describe the clinical management of a patient with TAP1 deficiency and discuss the treatment of an Epstein-Barr virus (EBV)-associated B cell lymphoma using cellular therapy.
methodsWe report the first case of a TAP1-deficient patient who developed EBV-associated diffuse large B-cell lymphoma (DLBCL). Clinical, immunological, histopathological and genetic evaluations were conducted. Treatment included standard chemotherapy regimens and adoptive immunotherapy with EBV-specific allogeneic T-cells (Tabelecleucel).
resultsA male patient presented with childhood-onset chronic respiratory infections and treatment-refractory cutaneous granulomas. Genetic testing revealed a homozygous pathogenic nonsense mutation in TAP1. The patient developed EBV+ DLBCL, refractory to rituximab-based therapies. Partial clinical stabilization was achieved with Tabelecleucel, but disease progression ensued.
conclusionsThis is the first reported TAP1-deficient case developing EBV+ lymphoma, highlighting the malignancy risk in BLS. Adoptive T-cell therapy showed transient benefit, suggesting a promising, though limited, approach in refractory EBV-associated malignancies in immunodeficient patients.
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