ArticleFrontiers in immunology2019
Classical and Non-classical Presentations of Complement Factor I Deficiency: Two Contrasting Cases Diagnosed via Genetic and Genomic Methods.
Article in Frontiers in immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Complete Complement Factor I (CFI) deficiency: a systematic review of forty-nine patients including three novel cases.BMC immunology · 2025Pooled it
- The Bacterial Swiss Army Knife: ExPEC Utilizes Multiple Resistance Mechanisms to Counteract Host Immune Responses.Vaccines · 2025Review
- 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
- The Complement System.Advances in experimental medicine and biology · 2025Review
- Complete recovery after complement factor I deficiency associated fulminant acute hemorrhagic leukoencephalitis: a case report.Frontiers in immunology · 2025Article
- Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort.The Journal of biological chemistry · 2024Article
- Low-frequency inherited complement receptor variants are associated with purpura fulminans.Blood · 2024Article
- CNS Inflammation as the First Sign of Complement Factor I Deficiency: A Severe Myelitis Treated With Intense Immunotherapy and EculizumabNeurology(R) neuroimmunology & neuroinflammation · 2024Article
- Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.Genome medicine · 2023Article
- Complement Factor I Gene Variant as a Treatable Cause of Recurrent Aseptic Neutrophilic Meningitis: A Case Report.Neurology(R) neuroimmunology & neuroinflammation · 2023Article
- Article
- Pearls & Oy-sters: Homozygous Complement Factor I Deficiency Presenting as Fulminant Relapsing Complement-Mediated CNS Vasculitis.Neurology · 2023Article
- Rapid genome sequencing identifies novel variants in complement factor I.Cold Spring Harbor molecular case studies · 2022Article
- Genetic variation in genes of inborn errors of immunity in children with unexplained encephalitis.Genes and immunity · 2022Article
- The yin and the yang of early classical pathway complement disorders.Clinical and experimental immunology · 2022Review
- Venus: Elucidating the Impact of Amino Acid Variants on Protein Function Beyond Structure Destabilisation.Journal of molecular biology · 2022Article
- Rare genetic causes of meningitis and encephalitis.Encephalitis (Seoul, Korea) · 2022Review
- Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.Nature communications · 2021Article
- Primary pneumococcal peritonitis can be the first presentation of a familial complement factor I deficiencyClinical and experimental immunology · 2020Article
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 1 country.
Funding
Abstract
Deficiency of complement factor I is a rare immunodeficiency that typically presents with increased susceptibility to encapsulated bacterial infections. However, non-infectious presentations including rheumatological, dermatological and neurological disease are increasingly recognized and require a high-index of suspicion to reach a timely diagnosis. Herein, we present two contrasting cases of complement factor I deficiency: one presenting in childhood with invasive pneumococcal disease, diagnosed using conventional immunoassays and genetics and the second presenting in adolescence with recurrent sterile neuroinflammation, diagnosed via a genomic approach. Our report and review of the literature highlight the wide spectrum of clinical presentations associated with CFI deficiency and the power of genomic medicine to inform rare disease diagnoses.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.