ArticleClinical and experimental immunology2006
Recurrent infections in partial complement factor I deficiency: evaluation of three generations of a Brazilian family.
Article in Clinical and experimental immunology, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Characteristics of the complement system gene expression deficiency in patients with symptomatic pulmonary embolism.Thrombosis research · 2013Trial
- The specific contributions of factor H and factor I in controlling fluid phase activation of the alternative complement pathway.Scientific reports · 2025Article
- Rapid genome sequencing identifies novel variants in complement factor I.Cold Spring Harbor molecular case studies · 2022Article
- Predicting physiological aging rates from a range of quantitative traits using machine learning.Aging · 2021Article
- European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.Journal of clinical immunology · 2020Article
- Mathematical Modelling of Alternative Pathway of Complement System.Bulletin of mathematical biology · 2020Article
- Combined Immunodeficiency With Inflammatory Bowel Disease in a Patient With TTC7A Deficiency.ACG case reports journal · 2019Article
- Cutaneous Vasculitis and Recurrent Infection Caused by Deficiency in Complement Factor I.Frontiers in immunology · 2018Article
- Local complement activation in aqueous humor in patients with age-related macular degeneration.Eye (London, England) · 2017Article
- The relative merits of therapies being developed to tackle inappropriate ('self'-directed) complement activation.Auto- immunity highlights · 2016Article
- Complement, a target for therapy in inflammatory and degenerative diseases.Nature reviews. Drug discovery · 2015Review
- Complement factor I deficiency: a not so rare immune defect: characterization of new mutations and the first large gene deletion.Orphanet journal of rare diseases · 2012Article
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We report here on the evaluation of a factor I-deficient Brazilian family (three generations, 39 members) with strong consanguinity. The complete factor I-deficient patients (n = 3) presented recurrent respiratory infections, skin infections and meningitis; one of them died after sepsis. They presented an impaired total haemolytic activity (CH50), low C3, low factor H and undetectable C3dg/C3d. Partial factor I deficiency was detected in 16 family members (normal low cut-off value was 25 microg/ml). Respiratory infections were the most common clinical occurrence among partial factor I-deficient relatives. Two of them were submitted to nephrectomy following recurrent urinary tract infections. An additional two heterozygous relatives presented with arthritis and rheumatic fever. Apparently, patients with partial factor I deficiency are also at higher risk for recurrent infections. Vaccination against capsulated bacteria and the eventual use of prophylactic antibiotics should be considered individually in this patient group.
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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.