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Abstract Details

A Case of FIRES/NORSE Associated with a Pathogenic Heterozygous Variant in TNFRSF13B Implicated in Common Variable Immunodeficiency
Autoimmune Neurology
P1 - Poster Session 1 (8:00 AM-9:00 AM)
9-002
N/A
Febrile infection-related epilepsy syndrome (FIRES) is a rare epileptic syndrome characterized by new-onset refractory status epilepticus (NORSE) preceded by a febrile illness. Studies have shown that elevated levels of pro-inflammatory cytokines may contribute to its pathophysiology with evidence that immunomodulators can improve clinical outcomes. Limited literature exists regarding the relationship between primary immunodeficiencies and immune-mediated epilepsy.
N/A

A 21-year-old female with a history of recurrent sinus infections, asthma, thrombocytopenia, atrioventricular nodal reentrant tachycardia, and neonatal seizures presented with fever and new-onset status epilepticus. Lumbar puncture demonstrated a lymphocytic pleocytosis with elevated protein. MRI brain showed T2 hyperintensities in the mesial temporal lobe. Infectious etiologies were excluded, and no clinically significant autoantibodies were identified. Treatment included multiple antiseizure medications, ketogenic diet, deep brain simulation and immunotherapies (corticosteroids, intravenous immunoglobulins, plasmapheresis, rituximab, tocilizumab and anakinra). Diagnostic evaluations showed low IgA levels prior to her first dose of rituximab, and she developed pan-hypogammaglobulinemia after rituximab. Genetic testing revealed a pathogenic heterozygous variant in TNFRSF13B c.311G>A (p.Cys104Tyr) which encodes for TACI (transmembrane activator and calcium modulator and cyclophilin ligand interactor), a tumor necrosis factor receptor expressed on B cells. Her prolonged hospitalization has been complicated by various infections and posterior reversible encephalopathy syndrome. Currently, she is seizure-free for one month with slow but encouraging signs of neurological recovery.

Mutations in TNFRSF13B are associated with common variable immunodeficiency (CVID). Biallelic variants in TACI are associated with hypogammaglobulinemia in children, and heterozygous variants are associated with autoimmune disease in adulthood. Neurological complications of CVID are rare, though none reported in association with refractory seizures. Primary immunodeficiencies should be considered in FIRES/NORSE cases, as immunosuppressive medications such as rituximab can mask an underlying immunodeficiency. Care should be taken in these cases to select the appropriate immunomodulatory therapies. 
Authors/Disclosures
Jacqueline Shanley, CRC (UCSD)
PRESENTER
Miss Shanley has nothing to disclose.
Jennifer H. Yang, MD (Rady Childrens Hospital/UCSD) Dr. Yang has received research support from Pediatric Epilepsy Research Foundation. Dr. Yang has received research support from NIH.
Jamie LaBuzetta, MD (UC San Diego Health) Dr. LaBuzetta has nothing to disclose.
Cynthia Gonzalez, MD Dr. Gonzalez has nothing to disclose.
No disclosure on file
No disclosure on file
Anastasie M. Dunn-Pirio, MD (UC San Diego) Dr. Dunn-Pirio has nothing to disclose.