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We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD). While several case reports have documented NMOSD induced by other ICIs, this is the first case associated with cemiplimab. Although guidelines exist for the acute treatment of a first relapse of ICI-induced NMOSD, long-term management to prevent new relapses remains challenging. We believe that these patients require maintenance therapy to prevent future relapses and propose rituximab or tocilizumab as suitable options.
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http://dx.doi.org/10.1016/j.clineuro.2025.109120 | DOI Listing |
Clin Neurol Neurosurg
October 2025
Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
We present the case of a 54-year-old patient treated with cemiplimab, an immune checkpoint inhibitor (ICI), for multiple basal cell carcinomas in the context of Gorlin Goltz syndrome. Gorlin Goltz syndrome is an autosomal dominant multisystem disorder characterized, among other features, by multiple early-onset basal cell carcinomas (BCCs). After receiving Cemiplimab, she developed aquaporin-4 antibody (AQP4-Ab) positive neuromyelitis optica spectrum disorder (NMOSD).
View Article and Find Full Text PDFJ Neuroimmune Pharmacol
August 2025
Department of Neurology, Punan Branch of Ren Ji Hospital, Shanghai Jiao Tong University School of Medicine (Punan hospital in Pudong new district), Shanghai, 200125, China.
Telitacicept, a novel recombinant fusion protein comprising the ligand-binding domain of the TACI receptor and the Fc component of human IgG, has rarely been studied for the treatment of neuromyelitis optica spectrum disorders (NMOSD). This study aimed to explore the effects of telitacicept in NMOSD mice. An NMOSD mouse model was constructed.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
September 2025
Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Background And Objectives: Acquired demyelinating syndromes associated with serum antibodies against myelin oligodendrocyte glycoprotein have been recognized as MOG-IgG-associated disorders (MOGADs). Patients with MOGAD show distinct features compared with individuals with multiple sclerosis (MS) or neuromyelitis optica spectrum disorders (NMOSDs). Up to 50% of patients experience relapsing disease courses, usually associated with persisting high MOG-IgG titers.
View Article and Find Full Text PDFMult Scler Relat Disord
August 2025
Department of Neurology, Shanxi Provincial People's Hospital, The Fifth Clinical Medical College of Shanxi Medical University, Taiyuan, China; Shanxi Key Laboratory of Brain Disease Control, Shanxi Provincial People's Hospital, Taiyuan, China. Electronic address:
Neuromyelitis optica spectrum disorder (NMOSD) is a relapsing autoimmune disease primarily characterized by anti-aquaporin-4 immunoglobulin G (AQP4-IgG)-mediated astrocyte injury, neuroinflammation, and demyelination. Glial cells-including astrocytes, microglia, and oligodendrocyte lineage cells-play central roles in NMOSD pathogenesis. Astrocyte loss induced by AQP4-IgG initiates a cascade of immune responses involving microglial activation, proinflammatory cytokine release, and subsequent oligodendrocyte damage.
View Article and Find Full Text PDFNeurol Neuroimmunol Neuroinflamm
July 2025
Weill Institute for Neurosciences, University of California San Francisco (UCSF).
Background And Objectives: Neutropenia is described as a rare adverse event associated with B cell-depleting therapy (BCDT) use in patients with multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). However, little is known about longitudinal clinical outcomes. We estimated the real-world incidence of neutropenia among patients with neuroinflammatory disease treated with BCDT and characterized the clinical course.
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