ArticleNeurology(R) neuroimmunology & neuroinflammation2024
CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and Eculizumab
Article in Neurology(R) neuroimmunology & neuroinflammation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.BMC immunology · 2025Pooled it
- Systemic complement factors in aging, Alzheimer's disease and other dementias: a longitudinal study over 10 years.Molecular neurodegeneration · 2026Article
- Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in complement factor I deficiency.Journal of human immunity · 2025Article
- Complement factor I deficiency-associated neuroinflammatory disease among Old Order Amish.The Journal of allergy and clinical immunology · 2025Article
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Article
- Complement activation in immunological neurological disorders: mechanisms and therapeutic strategies.Frontiers in neurology · 2025Review
- Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report.Frontiers in immunology · 2025Article
- Mitigating sTNF/TNFR1 activation on VGluT2+ spinal cord interneurons improves immune function after mid-thoracic spinal cord injury.bioRxiv : the preprint server for biology · 2024Article
- Functional evaluation of rare variants in complement factor I using a minigene assay.Frontiers in immunology · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesComplement factor I (CFI) deficiency is a rare autosomal recessive inborn error of immunity. In this report, we highlight that complete CFI deficiency may present with isolated and severe CNS inflammation without associated systemic features nor prior non-CNS episodes. This inflammation may respond to complement blockade therapy.
methodsThis is a case description of a young girl with severe longitudinal transverse myelitis treated with aggressive immunotherapy that included eculizumab. Published cases of CFI-associated CNS inflammation were reviewed and discussed.
resultsA primary immunodeficiency panel revealed 2 germline pathogenic variants in the CFI gene. Further complement testing of the index case and her family confirmed complete CFI deficiency. DISCUSSION: We describe a unique case of severe spinal inflammation secondary to complete CFI deficiency. Although rare, isolated CNS inflammation may be the primary manifestation of complete CFI deficiency. To halt the uncontrolled complement-mediated inflammation associated with CFI deficiency, prompt targeted blockade of the complement pathway using eculizumab may be life changing in the acute phase. Long-lasting blockade of the complement pathway is also essential to prevent relapse in this subgroup of patients.
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