Neuromyelitis optica spectrum disorder associated with Kabuki syndrome: First reported case and immunopathogenic considerations. (PubMed, Mult Scler) - Oct 9, 2026 - "He received corticosteroids, plasma exchange, and rituximab, achieving full recovery and remaining relapse-free during follow-up. Genetic testing showed a likely pathogenic KMT2D variant. This case documents the first association between these conditions, where immune dysregulation, including FOXP3-dependent regulatory T-cell dysfunction and Th17-skewed inflammation, suggests a mechanistic link with implications for diagnosis and management."
Journal • CNS Disorders • Endocrine Disorders • Immunology • Inflammation • Neuromyelitis Optica Spectrum Disorder • Ocular Inflammation • Ophthalmology • Optic Neuritis • Rare Diseases • FOXP3 • KDM6A • KMT2D
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José María Barrios-López; María Del Carmen Barrera-Aguilera; Marta Molina-Haro
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