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Purpose <p>Mutations in <i>TAP1</i> 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.</p> Methods <p>We 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).</p> Results <p>A male patient presented with childhood-onset chronic respiratory infections and treatment-refractory cutaneous granulomas. Genetic testing revealed a homozygous pathogenic nonsense mutation in <i>TAP1</i>. The patient developed EBV+ DLBCL, refractory to rituximab-based therapies. Partial clinical stabilization was achieved with Tabelecleucel, but disease progression ensued.</p> Conclusions <p>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.</p>

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First Case of TAP1 Deficiency with EBV B-Cell Lymphoma Treated with Cellular Immunotherapy

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年4月9日

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  • Francisco Javier Bermejo-Olivera,
  • Miriam Velasco-Sidro,
  • Rodrigo Íñiguez-García,
  • Daniel Arroyo-Sánchez,
  • Daniel Enrique Pleguezuelo-Garrote,
  • Manuel Serrano-Blanco,
  • Aurora Fernández-Galván,
  • Tycho Baumann,
  • Francisco Javier López-Jiménez,
  • Enrique Revilla-Sánchez,
  • Estela Paz-Artal,
  • Luis M. Allende,
  • Oscar Cabrera-Marante

摘要

Purpose

Mutations 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.

Methods

We 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).

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.