ReviewJournal of clinical immunology2025
Epstein-Barr Virus-Associated Smooth Muscle Tumors in inborn Errors of Immunity: A single-center Case Series and Literature Overview.
Review in Journal of clinical immunology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Endobronchial Epstein-Barr Virus-Associated Smooth Muscle Tumor in Advanced HIV Infection: A Rare Case.The American journal of case reports · 2026Article
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Authors and funding
6 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPrimary immunodeficiency disease (PID)/Inborn Errors of Immunity (IEI) with T-cell dysfunction is well-known for susceptibility to opportunistic/viral infections. Epstein–Barr virus-positive smooth muscle tumor (EBV-SMT) is a rare entity primarily seen in the setting of immunodeficiency, such as transplantation, HIV/AIDS, and IEI.
aimThis study aimed to characterize patients’ clinical/immunologic/genetic features with EBV-SMT and assess their association with IEI.
methodsWe reviewed the medical records of patients with EBV-SMT in an outpatient immunology clinic and analyzed a total of 33 patients, including 24 identified from the literature.
resultsThe study included nine patients (male/ female = 6/3). The median ages at the onset of symptoms, clinical diagnosis of PID, genetic diagnosis, and EBV-SMT diagnosis were 12 months (1–84 months), 6 years (2–15 years), 10 years (6–18 years), and 10 years (4–18 years), respectively. The parental consanguinity ratio was 7/9(78%). Four patients had combined immunodeficiency. Five out of nine patients (56%) received a genetic IEI diagnosis: JAK3 deficiency (n = 1), STAT1 GOF (n = 1), CARMIL2 deficiency (n = 1), DOCK8 deficiency (n = 1), and ITK deficiency (n = 1). Recurrent infections (100%), chronic diarrhea/colitis (78%), organomegaly (67%), and lymphadenopathy (56%) were prevalent among the patients. Six patients exhibited leiomyoma-like morphology, while three had leiomyosarcoma-like morphology. Five out of nine patients (55%) died, two of whom succumbed due to the complications of hematopoietic stem cell transplantation.
conclusionEBV-SMT may suggest an underlying immunodeficiency. Since the mortality is high, early genetic diagnosis of IEI, monitoring the patients with IEI for chronic EBV and cancer, and an individualized therapeutic approach will minimize complications.
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