• Richard Curtis Godby, Ryan R Kraemer, Jori May, Swati Soni, Vishnu Reddy, John V Thomas, and Amitkumar Mehta.
• Department of Medicine, Division of General Internal Medicine, University of Alabama at Birmingham, Birmingham, AL, United States; Department of Pathology, Division of Laboratory Medicine, University of Alabama at Birmingham, Birmingham, AL, United States. Electronic address: rgodby@uabmc.edu.
• Am. J. Med. Sci. 2021 Mar 1; 361 (3): 388-393.

AbstractWe report, to the best of our best knowledge, the oldest individual to ever be diagnosed with Familial Hemophagocytic Lymphohistiocytosis (FHL) Type 2 from homozygous c.1349C>T (p.T450M) missense variants in the PRF1 gene. This rare case advanced in complexity with a simultaneous diagnosis of Chronic Active Epstein-Barr Virus (CAEBV) - a distinct clinical entity from acute EBV infections and a well-described trigger of Hemophagocytic Lymphohistiocytosis (HLH). This is, to the best of our knowledge, the only individual to ever be diagnosed with CAEBV in the setting of this specific variant and the oldest to be diagnosed with a coexisting perforin variant. This case provides understanding of EBV, human genetics, and lymphoproliferative disorders while adding a unique differential diagnosis to adults who present with fever of unknown origin and diffuse lymphadenopathy without evidence of malignancy. This report explores the diagnosis and treatment of both HLH and CAEBV, encouraging discussion regarding current clinical management and future research needs.Copyright © 2020 Southern Society for Clinical Investigation. Published by Elsevier Inc. All rights reserved.

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