Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.
| Autor: | Yang JH; Neurosciences, University of California San Diego, San Diego, USA.; Pediatric Neurology, Rady Children's Hospital San Diego, San Diego, USA., Scanlon N; Allergy and Immunology, University of California San Diego, San Diego, USA., Woo W; Allergy and Immunology, Kaiser Permanente San Jose Medical Center, San Jose, USA., LaBuzetta JN; Neurosciences, University of California San Diego, San Diego, USA., Gonzalez C; Neurosciences, University of California San Diego, San Diego, USA., Broderick L; Allergy and Immunology, University of California San Diego, San Diego, USA., Doherty T; Allergy and Immunology, University of California San Diego, San Diego, USA., Riedl M; Allergy and Immunology, University of California San Diego, San Diego, USA., Dunn-Pirio A; Neurosciences, University of California San Diego, San Diego, USA. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2023 Nov 03; Vol. 15 (11), pp. e48222. Date of Electronic Publication: 2023 Nov 03 (Print Publication: 2023). |
| DOI: | 10.7759/cureus.48222 |
| Abstrakt: | 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. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2023, Yang et al.) |
| Databáze: | MEDLINE |
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