From T-Cell Defect to Tumorigenesis: EBV-Associated Smooth Muscle Tumors in ITK Deficiency

Clicks: 41
ID: 313668
2026
Free PDF
Article Quality & Performance Metrics
Overall Quality
Not rated
Combines reader engagement with the AI quality analysis. This article has not been analysed, so there is no overall score — reader engagement is measured and shown alongside.
AI Quality Assessment
Not analyzed
Readership in this journal
Popular

Ranked #10 of 46 articles by views in Clinical & Experimental Immunology

Most read Least read

Bar heights use a square-root scale.

Mint this article as an NFT
Not yet minted

Create a permanent, verifiable on-chain record of this article on the Scimatic Network. The NFT is held in your Journament account, and you can withdraw it to your own wallet at any time.

5 SUSD one-off · no wallet required
Sign in to mint
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.
Reference Key
openalex_W7161130800 Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
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
Are you one of these authors? Claim your profile
Journal Clinical & Experimental Immunology
Year 2026
DOI
10.1093/cei/uxag028
URL
https://doi.org/10.1093/cei/uxag028
Keywords Keywords not found

Citations

No citations found. To add a citation, contact the admin at info@scimatic.org

Comments

No comments yet. Be the first to comment on this article.