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Updated: May 13, 2026
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Induction of Experimental Autoimmune Encephalomyelitis in Mice and Evaluation of the Disease-dependent Distribution of Immune Cells in Various Tissues
Published on: May 8, 2016
An autoinflammatory neurological disease due to interleukin 6 hypersecretion
Ettore Salsano1, Ambra Rizzo, Gloria Bedini
1UO Neurologia VIII, Department of Clinical Neurosciences, IRCCS Foundation, "C, Besta" Neurological Institute, Milan 20133, Italy. ettore.salsano@istituto-besta.it
Journal of Neuroinflammation
|February 26, 2013
Summary
This study identifies a novel autoinflammatory disease presenting with neurological symptoms. Selective interleukin-6 hypersecretion in the central nervous system was found to be the likely cause, responding to tocilizumab.
Area of Science:
- Immunology
- Neurology
- Genetics
Background:
- Autoinflammatory diseases are rare, unprovoked inflammatory conditions lacking auto-antibodies.
- Neurological manifestations like meningitis and hearing loss can occur alongside non-neurological symptoms.
Observation:
- A 30-year-old man presented with chronic meningitis, hearing loss, elevated inflammatory markers, and leukoencephalopathy.
- He also had recurrent osteomyelitis of the mandible.
- Genetic testing revealed mutations in NLRP3 and MEFV, but these were deemed non-pathogenic in combination.
Findings:
- Selective interleukin-6 (IL-6) hypersecretion within the central nervous system was identified as the probable pathogenic mechanism.
- The patient responded to tocilizumab (anti-IL-6 receptor antibody) but not anakinra (anti-IL-1 receptor antagonist).
- Exome sequencing did not reveal mutations in other known autoinflammatory disease genes.
Implications:
- This case suggests a potential new category of autoinflammatory diseases with significant neurological involvement.
- Targeting IL-6 may be a therapeutic strategy for similar conditions.
- Further research is needed to understand the pathogenesis and identify other genetic factors.
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