First Case of Tap1 Deficiency With Ebv B-cell Lymphoma Treated With Cellular Immunotherapy

Purpose: Bare Lymphocyte Syndrome (BLS) type I, due to mutations in TAP1, leads to impaired HLA class I expression and increased susceptibility to infections. EBV-driven lymphomas are rare in BLS patients. Here, we will expose the management of a TAP1 deficiency, and we will expose the possibility of treat an EBV-associated B cell lymphoma treated with cellular therapy. Methods: We report the first case of a TAP1-deficient patient who developed Epstein-Barr virus (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). Results: A 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. Conclusions: This 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