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Life-Threatening Primary Varicella Zoster Virus Infection With Hemophagocytic Lymphohistiocytosis-Like Disease in GATA2 Haploinsufficiency Accompanied by Expansion of Double Negative T-Lymphocytes

Lookup NU author(s): Professor Sophie Hambleton



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.

Publication metadata

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


DOI: 10.3389/fimmu.2018.02766

PubMed id: 30564229


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