Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B

Jennifer H Yang; Nicholas Scanlon; Wonhee Woo; Jamie N LaBuzetta; Cynthia Gonzalez; Lori Broderick; Taylor Doherty; Marc Riedl; Anastasie Dunn-Pirio

doi:10.7759/cureus.48222

Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B

Cureus. 2023 Nov 3;15(11):e48222. doi: 10.7759/cureus.48222. eCollection 2023 Nov.

Authors

Jennifer H Yang^{1

2}, Nicholas Scanlon³, Wonhee Woo⁴, Jamie N LaBuzetta¹, Cynthia Gonzalez¹, Lori Broderick³, Taylor Doherty³, Marc Riedl³, Anastasie Dunn-Pirio¹

Affiliations

¹ Neurosciences, University of California San Diego, San Diego, USA.
² Pediatric Neurology, Rady Children's Hospital San Diego, San Diego, USA.
³ Allergy and Immunology, University of California San Diego, San Diego, USA.
⁴ Allergy and Immunology, Kaiser Permanente San Jose Medical Center, San Jose, USA.

Abstract

Febrile infection-related epilepsy syndrome (FIRES) is a rare epileptic syndrome characterized by new-onset refractory status epilepticus preceded by a febrile illness. Limited literature exists regarding the relationship between primary immunodeficiencies and immune-mediated epilepsy, and the relationship between new-onset refractory status epilepticus and common variable immunodeficiency (CVID) is not well-understood. We present a case of a 21-year-old female with a history of recurrent sinus infections, asthma, thrombocytopenia, atrioventricular nodal reentrant tachycardia, and neonatal seizures who presented with fever and new-onset status epilepticus. She was ultimately diagnosed with a heterozygous variant in TNFRSF13B c.311G>A (p.Cys104Tyr), which encodes for a tumor necrosis factor receptor implicated in CVID.

Keywords: autoimmune epilepsy; common variable immunodeficiency deficiency; febrile status epilepticus; primary immunodeficiency disease; refractory status epilepticus.

Publication types

Case Reports