Case Report: From Talaromyces marneffei infection to EBV-positive lymphoma in an adult with anti-IFN-γ autoantibody-associated immunodeficiency

21 Apr 20264 min read0 viewsJournal Feed

GIST (Key Takeaways)

Background. Anti–interferon-γ autoantibodies (AIGAs) are an established cause of adult-onset immunodeficiency (AOID), predisposing individuals to disseminated intracellular infections such as Talaromyces marneffei (TM). However, their role in promoting persistent immune dysregulation and subsequent lymphomagenesis remains poorly understood. Case presentationA 63-year-old Chinese female with high-titer AIGAs (1:2500) initially presented with disseminated TM.
Despite antifungal therapy, her clinical course was complicated by recurrent opportunistic infections—including Varicella-zoster virus (VZV) and Mycobacterium persicum (M. persicum), and steroid-dependent inflammatory episodes. Approximately two years after the initial presentation, she developed an Epstein-Barr virus (EBV)-positive aggressive B-cell lymphoma, confirmed by mass biopsy and PET/CT. Despite treatment with rituximab and broad-spectrum antimicrobials, she died of Gram-negative septic shock.
Whole-exome sequencing (WES) revealed a CREBBP p. Q278P mutation, providing a genetic perspective on her disease susceptibility. Conclusion. This case illustrates a rare progression from AIGAs-associated immunodeficiency to EBV-driven lymphoma, suggesting a “triple-hit” pathogenic model that warrants further investigation, comprising: (1) AIGAs-associated AOID; (2) chronic antigenic stimulation from persistent infections that may exacerbate immune dysregulation; and (3) a CREBBP mutation that may act as a genetic contributor to malignant transformation.
This case underscores the necessity for rigorous tumor surveillance and individualized treatment in patients with AIGAs-associated immunodeficiency.

Clinical Editorial

Frontiers in Immunology published a clinical update in Infectious Disease on 21 Apr 2026. The item focuses on Case Report: From Talaromyces marneffei infection to EBV-positive lymphoma in an adult with anti-IFN-γ autoantibody-associated immunodeficiency. Open the detail page to review the full original feed content.