ReviewAmerican journal of human genetics2011
Disease-causing mutations in genes of the complement system.
Review in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 73 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
73 citing papers in PubMed, 1 synthesis or guideline pooled it, 175 citations in OpenAlex.
- Therapeutic Targeting of the Complement System: From Rare Diseases to Pandemics.Pharmacological reviews · 2021Pooled it
- Association between endogenous complement inhibitor and myocardial salvage in patients with myocardial infarction.European heart journal. Acute cardiovascular care · 2014Trial
- Complement defects in patients with chronic rhinosinusitis.PloS one · 2012Trial
- Review
- Sex- and age-dependent physiological adaptation of captive père david's deer revealed by multi-omics analysis.BMC genomics · 2026Article
- Proteomic Profiling of Complement Components in Glomerular Disease.Laboratory investigation; a journal of technical methods and pathology · 2026Article
- C4b-binding protein as an antigenic target in the pathogenesis of antiphosphatidylethanolamine autoantibodies.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Meningococcal prophylaxis in neurological diseases treated with complement inhibitors: an expert consensus for Germany, Austria, and Switzerland.Therapeutic advances in neurological disorders · 2026Review
- Adaptation and conservation of CL-10/11 in avian lungs: implications for their role in pulmonary innate immune protection.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2025Article
- DKK1+ tumor cells inhibited the infiltration of CCL19+ fibroblasts and plasma cells contributing to worse immunotherapy response in hepatocellular carcinoma.Cell death & disease · 2024Article
- Immunodeficiency: Complement disorders.Allergy and asthma proceedings · 2024Review
- The Lectin Pathway of the Complement System-Activation, Regulation, Disease Connections and Interplay with Other (Proteolytic) Systems.International journal of molecular sciences · 2024Review
- Correlation of Circulating Complement Levels with Clinical Characteristics of Patients with Diabetic Retinopathy.International journal of general medicine · 2024Article
- Elastin Layer in Bruch's Membrane as a Target for Immunization or Tolerization to Modulate Pathology in the Mouse Model of Smoke-Induced Ocular Injury.Advances in experimental medicine and biology · 2023Article
- Low levels of the innate immune system proteins MASP-2 and MAp44 in patients with common variable immunodeficiency.Scandinavian journal of immunology · 2022Article
- Intertwined pathways of complement activation command the pathogenesis of lupus nephritis.Translational research : the journal of laboratory and clinical medicine · 2022Review
- Ficolin-2 Lectin Complement Pathway Mediates Capsule-Specific Innate Immunity Against Invasive Pneumococcal Disease.Frontiers in immunology · 2022Article
- Further Expansion of the Mutational Spectrum of 3MC Syndrome: A NovelMolecular syndromology · 2021Article
- The Persistent Pain Transcriptome: Identification of Cells and Molecules Activated by Hyperalgesia.The journal of pain · 2021Article
- A rare cause of recurrent acute kidney injury in a 3-year-old girl: Answers.Pediatric nephrology (Berlin, Germany) · 2021Article
13 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for example, atypical hemolytic uremia and age-dependent macular degeneration. The complement system comprises three convergent pathways of activation: the classical, the alternative, and the lectin pathway. The recently discovered lectin pathway is less studied, but polymorphisms in the plasma pattern-recognition molecule mannan-binding lectin (MBL) are known to impact its level, and polymorphisms in the MBL-associated serine protease-2 (MASP-2) result in defects of complement activation. Recent studies have described roles outside complement and immunity of another MBL-associated serine protease, MASP-3, in the etiology of 3MC syndrome, an autosomal-recessive disorder involving a spectrum of developmental features, including characteristic facial dysmorphism. Syndrome-causing mutations were identified in MASP1, encoding MASP-3 and two additional proteins, MASP-1 and MAp44. Furthermore, an association was discovered between 3MC syndrome and mutations in COLEC11, encoding CL-K1, another molecule of the lectin pathway. The findings were confirmed in zebrafish, indicating that MASP-3 and CL-K1 underlie an evolutionarily conserved pathway of embryonic development. Along with the discovery of a role of C1q in pruning synapses in mice, these recent advances point toward a broader role of complement in development. Here, we compare the functional immunologic consequences of "conventional" complement deficiencies with these newly described developmental roles.
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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.