ArticleFrontiers in immunology2019
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
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 42 papers, 1 of them a synthesis that pooled it.
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Who cites it
42 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Genetic bases of C7 deficiency: systematic review and report of a novel deletion determining functional hemizygosity.Frontiers in immunology · 2023Pooled it
- Design of miniprotein inhibitors targeting complement C9 to block membrane attack complex assembly.Nature communications · 2026Article
- Childhood-onset hypocomplementaemic urticarial vasculitis in France: phenotypic and genotypic diversity in 10 children.Pediatric rheumatology online journal · 2026Article
- Meningococcal Serogroup Y Meningitis Reveals Inborn Factor B Deficiency.European journal of immunology · 2026Article
- Case Report: A novel homozygous splice-site variant in theFrontiers in immunology · 2026Article
- The Bacterial Swiss Army Knife: ExPEC Utilizes Multiple Resistance Mechanisms to Counteract Host Immune Responses.Vaccines · 2025Review
- Genetic Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis.Critical care explorations · 2025Article
- Genetic Terminal Complement Deficiency in Israeli Bedouins With Kidney Failure.Kidney international reports · 2025Article
- A Bioluminescence-Based Serum Bactericidal Assay to Detect Bactericidal Antibodies AgainstMicroorganisms · 2025Article
- The monogenic landscape of human infectious diseases.The Journal of allergy and clinical immunology · 2025Review
- The Complement System.Advances in experimental medicine and biology · 2025Review
- Description and phenotype of a novel C5 gene mutation and a novel combination: family report and literature review.Frontiers in immunology · 2025Review
- DKK1+ tumor cells inhibited the infiltration of CCL19+ fibroblasts and plasma cells contributing to worse immunotherapy response in hepatocellular carcinoma.Cell death & disease · 2024Article
- Properdin deficiency associated with systemic meningococcal disease due to a novel p.Cys337Arg pathogenic variant.Genes & diseases · 2024Article
- The complement system: A key player in the host response to infections.European journal of immunology · 2024Review
- Immunodeficiency: Complement disorders.Allergy and asthma proceedings · 2024Review
- Local complement activation and modulation in mucosal immunity.Mucosal immunology · 2024Review
- Dissociation Phenomenon of Erythrocyte Agglutination and Its Application to Assay of Functional Activity of the Complement System in Clinical Laboratory.Journal of clinical laboratory analysis · 2024Article
- Inborn errors of immunity in adulthood.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2024Review
- Case Report: C3 deficiency in two siblings.Frontiers in pediatrics · 2024Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The complement system is crucial for defense against pathogens and the removal of dying cells or immune complexes. Thus, clinical indications for possible complete complement deficiencies include, among others, recurrent mild or serious bacterial infections as well as autoimmune diseases (AID). The diagnostic approach includes functional activity measurements of the classical (CH50) and alternative pathway (AP50) and the determination of the C3 and C4 levels, followed by the quantitative analysis of individual components or regulators. When biochemical analysis reveals the causal abnormality of the complement deficiency (CD), molecular mechanisms remains frequently undetermined. Here, using direct sequencing analysis of the coding region we report the pathogenic variants spectrum that underlie the total or subtotal complement deficiency in 212 patients. We identified 107 different hemizygous, homozygous, or compound heterozygous pathogenic variants in 14 complement genes [
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