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HHV-8-related Hemophagocytic Lymphohistiocytosis in a Boy With XLP Phenotype

Pasic, Srdjan MD, PhD; Cupic, Maja MD; Lazarevic, Ivana MD

Journal of Pediatric Hematology/Oncology: August 2012 - Volume 34 - Issue 6 - p 467–471
doi: 10.1097/MPH.0b013e3182375372
Clinical and Laboratory Observations

We report a 2.5-year-old boy with an X-linked lymphoproliferative disease (XLP) phenotype who presented with human herpes virus-8 (HHV-8)-related hemophagocytic lymphohistiocytosis (HLH). XLP is a rare primary immunodeficiency characterized by extreme susceptibility to herpes viruses, mainly Epstein-Barr virus (EBV). Approximately 60% of patients with XLP present with fulminant mononucleosis associated with HLH, whereas remaining patients present with hypogammaglobulinemia or lymphoproliferative disease. Most commonly, one of the XLP phenotypes appears after exposure to EBV, but at least 12% of affected individuals developed symptoms without an evidence of EBV infection. Rarely, patients with XLP may present with central nervous system vasculitis or aplastic anemia. HHV-8 is lymphotrophic and it is associated with lymphoproliferative disorders and Kaposi sarcoma in immunodeficient hosts. Kaposi sarcoma rarely occurs in children with well-defined primary immunodeficiency. Also, HHV-8-related HLH was previously reported in 2 siblings with a perforin gene deficiency. Recently, it became evident that besides EBV, other viruses may trigger the symptoms in XLP. We report for the first time HHV-8-related HLH in EBV-negative pediatric patient with an XLP phenotype.

*Department of Pediatric Immunology, Mother and Child Health Institute

Institute of Microbiology and Immunology, Faculty of Medicine, University of Belgrade, Belgrade, Serbia

S.P., M.C., and I.L. significantly contributed in preparation of this manuscript.

This manuscript is partially funded through the Grants (No. 175065 to S.P. and No. 175073 to S.P., M.C., and I.L.), Ministry of Science, Republic of Serbia.The authors declare no conflict of interest.

Reprints: Srdjan Pasic, MD, PhD, Mother and Child Health Institute, 8 R. Dakica Street, 11070 Belgrade, Serbia (e-mail:

Received May 2, 2011

Accepted September 12, 2011

Copyright © 2012 Wolters Kluwer Health, Inc. All rights reserved.