From T-Cell Defect to Tumorigenesis: EBV-Associated Smooth Muscle Tumors in ITK Deficiency
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ID: 313668
2026
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Abstract
INTRODUCTION: Interleukin-2-inducible T-cell kinase (ITK) is critical for T-cell receptor signaling and antiviral immunity. ITK deficiency is a rare combined immunodeficiency, classically linked to EBV (Epstein-Barr virus)-driven lymphoproliferation, with only two previous reports of EBV-associated smooth muscle tumors (EBV-SMT). METHODS: We report a 13-year-old boy with recurrent respiratory infections and bilateral adrenal masses. Immunophenotyping, targeted gene panel sequencing, histopathology, immunohistochemistry, and EBV in situ hybridization (EBER-ISH) were performed to investigate underlying immunodeficiency and tumor etiology. Computational modeling assessed the functional impact of the identified ITK variant. RESULTS: The patient exhibited CD4+ T-cell lymphopenia and markedly reduced regulatory T cells. Histopathology and immunohistochemistry confirmed bilateral adrenal leiomyomas, and EBER-ISH demonstrated EBV infection within tumor cells despite negative blood EBV serology, indicating tissue-restricted viral persistence. Genetic analysis revealed a novel homozygous ITK variant (c.1673C>T; p.Pro558Leu) in the kinase domain, predicted to destabilize the protein and impair TCR signaling. CONCLUSION: This represents the first African case of ITK deficiency complicated by EBV-SMT, expanding the recognized tumor spectrum and highlighting that EBV can remain localized within tissue despite negative systemic serology. The combination of CD4+ T-cell lymphopenia and Treg reduction underscores ITK's critical role in antiviral immunity and tumor surveillance. Tissue-based EBV detection is essential for accurate diagnosis in immunodeficient patients presenting with smooth muscle tumors.
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| Authors | Khaoula Oussama, Fadoua Idrissi Fawzi, Ibtihal Benhsaien, N. Bennani Guebessi, Zahra Aadam, Ahamada Elamine, Siham Salam, Mehdi Karkouri, J. Elbakkouri, Ahmed Aziz Bousfiha, Mounia Alzemmouri, Fatima Ailal |
| Journal | Clinical & Experimental Immunology |
| Year | 2026 |
| DOI |
10.1093/cei/uxag028
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| URL | |
| Keywords | Keywords not found |
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