Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and NFKB
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ORIGINAL ARTICLE
Long-Term Survival after Progressive Multifocal Leukoencephalopathy in a Patient with Primary Immune Deficiency and NFKB1 Mutation Emke Maréchal 1,2
&
Karolien Beel 3 & Roel Crols 1,4 & Danielle Hernalsteen 5 & Barbara Willekens 2,6
Received: 7 January 2020 / Accepted: 3 September 2020 # Springer Science+Business Media, LLC, part of Springer Nature 2020
Abstract Purpose To describe the development of progressive multifocal leukoencephalopathy (PML) in a patient with primary immune deficiency (PID) due to a NFKB1 (nuclear factor kB subunit 1) mutation, who was treated successfully with a combination of mirtazapine and mefloquine. Methods We’ve based the treatment of our patient on literature research and provide a review of PML in CVID patients. Results Only a few reports have been published on the occurrence of PML in PID. PML is mainly observed in patients with reduced cellular immunity, which was not the case in our patient. Successful treatment options in this population are limited. Though severely disabled, our patient still survives, more than 4 years after symptom onset and shows consistent improvement on MRI (magnetic resonance imaging) and CSF (cerebrospinal fluid) analysis. Conclusion We conclude that some patients with PML might be treatable and can show long-term survival although neurological deficits remain. Involvement of humoral immunity in the pathogenesis of PML as well as the possible role of NFKB1 mutations in response to specific pathogens deserves further investigation. Keywords Progressive multifocal Leukoencephalopathy . PID . Common variable immunodeficiency . PML . Mirtazapine . Mefloquine . NFKB
Introduction PML is a result of infectious lysis of oligodendrocytes caused by the John Cunningham Polyoma Virus (JCV). This opportunistic infection occurs more frequently in immunocompromised
* Emke Maréchal [email protected] 1
Department of Neurology, ZNA Middelheim, Lindendreef 1, 2020 Antwerp, Belgium
2
Department of Neurology, Antwerp University Hospital, Antwerp, Belgium
3
Department of Hematology, ZNA Middelheim, Antwerp, Belgium
4
Department of Neurology, AZ Heilige Familie, Reet, Belgium
5
Department of Radiology, ZNA Middelheim, Antwerp, Belgium
6
Translational Neurosciences and Laboratory for Experimental Hematology, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium
patients, such as HIV (human immunodeficiency virus)-infected patients, multiple sclerosis (MS) patients treated with natalizumab, and patients with primary immunodeficiencies (PID). PID is a disorder resulting in impaired immune responses that may lead to increased susceptibility to infections, autoimmune disease, and malignancy. Many subtypes of PID exist, among which is CVID (common variable immunodeficiency). CVID encompasses a large group of primary immunodeficiencies of different causes, which have a common set of features including hypogammaglobulinemia and no or only mild T cell defects. NFKB1 variants are the most common monogenic cause of common
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