ArticleJournal of clinical immunology2013
Complete factor I deficiency due to dysfunctional factor I with recurrent aseptic meningo-encephalitis.
Article in Journal of clinical immunology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 1 of them a synthesis that pooled it.
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Who cites it
17 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.BMC immunology · 2025Pooled it
- Functional Analysis of Variants in Complement Factor I Identified in Age-Related Macular Degeneration and Atypical Hemolytic Uremic Syndrome.Frontiers in immunology · 2021Trial
- Complement Factor I Deficiency With Acute Hemorrhagic Leukoencephalitis and Longitudinally Extensive Transverse Myelitis: A Case Report.Neurology(R) neuroimmunology & neuroinflammation · 2025Article
- Complement factor I deficiency-associated neuroinflammatory disease among Old Order Amish.The Journal of allergy and clinical immunology · 2025Article
- Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report.Frontiers in immunology · 2025Article
- CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and EculizumabNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Pearls & Oy-sters: Homozygous Complement Factor I Deficiency Presenting as Fulminant Relapsing Complement-Mediated CNS Vasculitis.Neurology · 2023Article
- Rare genetic causes of meningitis and encephalitis.Encephalitis (Seoul, Korea) · 2022Review
- Complement Factor I Variants in Complement-Mediated Renal Diseases.Frontiers in immunology · 2022Article
- A rare cause of recurrent acute kidney injury in a 3-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
- Neuroinflammation Associated With Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.Frontiers in immunology · 2019Article
- Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.Frontiers in immunology · 2019Article
- Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I.Frontiers in immunology · 2018Article
- Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.Journal of clinical immunology · 2017Article
- Neuroinflammation and Infection: Molecular Mechanisms Associated with Dysfunction of Neurovascular Unit.Frontiers in cellular and infection microbiology · 2017Review
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeComplement regulators control the activated complement system. Defects in this homeostasis can result in tissue damage and autoimmune diseases with a heterogeneity in clinical presentation. Complement factor I (FI), a serine protease, is an important regulator of alternative pathway activation. We report a diagnostic work-up of a patient with relapsing inflammatory mediated meningo-encephalitis. Our work-up revealed a rare genetic factor I (FI) deficiency. So far, all cases of reported complete factor I deficiency have absent serum levels of FI. We present here a unique case of a complete factor I deficiency based on a functional FI defect.
methodsComplement assays and measurement of FI activity were performed in the patient, her family, factor H-deficient patients, a patient with C3-nephritic factor and 11 healthy controls. Genetic sequencing of the FI coding regions in the patient and her parents was performed.
resultsThe patient had absent alternative pathway activity with low levels of C3 and normal serum level of FI. The patient's plasma FI did not degrade C3b, with normalisation of C3b degradation after adding purified FI. Mutation analysis of the complement factor I gene revealed two heterozygous mutations (I322T and D506V).
conclusionTo our knowledge, this paper describes a complete FI deficiency caused by a defect of FI activity for the first time. Normal FI concentration does not exclude a complete FI defect, additional functional analysis of FI is required in any patient with a defect of complement activation. Recurrent aseptic meningo-encephalitis is a rare clinical presentation of complete FI deficiency.
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