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Lookup NU author(s): Professor Sophie HambletonORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
Two unrelated patients with GATA2-haploinsufficiency developed a hemophagocytic lymphohistiocytosis (HLH)-like disease during a varicella zoster virus (VZV) infection. High copy numbers of VZV were detected in the blood, and the patients were successfully treated with acyclovir and intravenous immunoglobulins. After treatment with corticosteroids for the HLH, both patients made a full recovery. Although the mechanisms leading to this disease constellation have yet to be characterized, we hypothesize that impairment of the immunoregulatory role of NK cells in GATA2-haploinsufficiency may have accentuated the patients' susceptibility to HLH. Expansion of a double negative T-lymphocytic population identified with CyTOF could be a further factor contributing to HLH in these patients. This is the first report of VZV-triggered HLH-like disease in a primary immunodeficiency and the third report of HLH in GATA2-haploinsufficiency. Since HLH was part of the presentation in one of our patients, GATA2-haploinsufficiency represents a potential differential diagnosis in patients presenting with the clinical features of HLH-especially in cases of persisting cytopenia after recovery from HLH.
Author(s): Prader S, Felber M, Volkmer B, Truck J, Schwieger-Briel A, Theiler M, Weibel L, Hambleton S, Seipel K, Vavassori S, Pachlopnik Schmid J
Publication type: Article
Publication status: Published
Journal: Frontiers in Immunology
Year: 2018
Volume: 9
Online publication date: 03/12/2018
Acceptance date: 12/11/2018
Date deposited: 04/01/2019
ISSN (electronic): 1664-3224
Publisher: Frontiers Research Foundation
URL: https://doi.org/10.3389/fimmu.2018.02766
DOI: 10.3389/fimmu.2018.02766
PubMed id: 30564229
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