Leaky Artemis Deficiency and EBV‐Related Lymphoproliferative Disease: A Novel Case and Review of the Literature

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Introduction: ) deficiency causes radiosensitive severe combined immunodeficiency (SCID), although hypomorphic cases can manifest later-onset immunodeficiency, autoimmunity, or lymphoproliferation. We report a 45-year-old man with humoral immunodeficiency, opportunistic infections, and recurrent EBV-positive diffuse large B-cell lymphoma (DLBCL). Methods: gene. Functional studies, including γH2AX assays to assess DNA damage repair and measurement of Type I interferon responses, were conducted to evaluate the impact of the variant. A literature review was performed to contextualize the findings. Results: was identified, leading to significantly decreased mutant protein expression. Functional testing confirmed impaired DNA damage repair, via γH2AX measurement, and elevated Type I interferon responses, indicating cytosolic DNA damage accumulation. A literature review highlighted EBV-positive lymphomas in leaky Artemis deficiency with high mortality rate. Conclusion: deficiency as an inborn error of immunity that predisposes to EBV-associated lymphoproliferative disease. Trial Registration: The authors have confirmed clinical trial registration is not needed for this submission.

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