Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-29

AUTHORS

Charlotte A. Slade, Catriona McLean, Thomas Scerri, Tran Binh Giang, Steven Megaloudis, Alexander Strathmore, Jessica C. Tempany, Katherine Nicholls, Colleen D’Arcy, Melanie Bahlo, Philip D. Hodgkin, Jo A. Douglass, Vanessa L. Bryant

ABSTRACT

Common variable immunodeficiency is the most prevalent of the primary immunodeficiency diseases, yet its pathogenesis is largely poorly understood. Of the cases that are monogenic, many arise due to pathogenic variants in NFKB1 and NFKB2. Here, we report enteroviral encephalomyelitis as the cause of a fatal neurodegenerative condition in a patient with a novel heterozygous mutation in NFKB2 (c.2543insG, p.P850Sfs36*) that disrupts non-canonical NF-κB signaling. Investigations of primary and secondary lymphoid tissue demonstrated a complete absence of B cells and germinal centers. Despite multiple negative viral PCR testing of cerebrospinal fluid during her disease progression, post-mortem analysis of cerebral tissue revealed a chronic lymphocytic meningoencephalitis, in the presence of Cocksackie A16 virus, as the cause of death. The clinical features, and progression of disease reported here, demonstrate divergent clinical and immunological phenotypes of individuals within a single family. This is the first reported case of fatal enteroviral encephalomyelitis in a patient with NF-κB2 deficiency and mandates a low threshold for early brain biopsy and the administration of increased immunoglobulin replacement in any patient with a defect in this pathway and deterioration of neurological status. More... »

PAGES

1-12

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10875-019-00602-x

DOI

http://dx.doi.org/10.1007/s10875-019-00602-x

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1113113651

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30927119


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Download the RDF metadata as:  json-ld nt turtle xml License info

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Turtle is a human-readable linked data format.

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RDF/XML is a standard XML format for linked data.

curl -H 'Accept: application/rdf+xml' 'https://scigraph.springernature.com/pub.10.1007/s10875-019-00602-x'


 

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