ArticleFrontiers in immunology2016
C1q Deficiency and Neuropsychiatric Systemic Lupus Erythematosus.
Article in Frontiers in immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- C1q as a target molecule to treat human disease: What do mouse studies teach us?Frontiers in immunology · 2022Pooled it
- Microglial phagocytosis in epilepsy: Mechanisms and impact.The Journal of physiology · 2026Review
- Neurological Complications in Inborn Errors of Immunity: A Scoping Review of Clinical Spectrum, Pathophysiological Mechanisms, and Therapeutic Strategies.Clinical reviews in allergy & immunology · 2025Article
- Two siblings with monogenic lupus due to C1qC deficiency and case based review.Clinical rheumatology · 2025Review
- A Collagen Triple Helix without the Superhelical Twist.ACS central science · 2025Article
- Drug-resistant epilepsy associated with peripheral complement decreases and sex-specific cytokine imbalances: a pilot study.Scientific reports · 2025Article
- Towards precision medicine for systemic lupus erythematosus and neuropsychiatric manifestations.Expert review of precision medicine and drug development · 2025Article
- Unveiling host-genetic drivers of caecal microbial communities in chickens through genome-wide association studies.Frontiers in microbiomes · 2025Article
- Profile of juvenile systemic lupus erythematosus patients with a special reference to monogenic lupus and lupus nephritis: a cross-sectional study.Rheumatology international · 2024Article
- A Collagen Triple Helix without the Super Helical Twist.bioRxiv : the preprint server for biology · 2024Article
- Sex-Specific Complement and Cytokine Imbalances in Drug-Resistant Epilepsy: Biomarkers of Immune Vulnerability.bioRxiv : the preprint server for biology · 2024Article
- Article
- Genetics of SLE: does this explain susceptibility and severity across racial groups?Rheumatology (Oxford, England) · 2023Review
- Origins and immunopathogenesis of autoimmune central nervous system disorders.Nature reviews. Neurology · 2023Review
- Predicting diagnostic gene expression profiles associated with immune infiltration in patients with lupus nephritis.Frontiers in immunology · 2022Article
- Circulating Levels of Anti-C1q and Anti-Factor H Autoantibodies and Their Targets in Normal Pregnancy and Preeclampsia.Frontiers in immunology · 2022Article
- Neutrophil heterogeneity in complement C1q expression associated with sepsis mortality.Frontiers in immunology · 2022Article
- Neuroinflammation Associated With Inborn Errors of Immunity.Frontiers in immunology · 2021Review
- New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.Journal of clinical medicine · 2020Review
- Inverse correlation between serum complement component C1q levels and whole blood type-1 interferon signature in active tuberculosis and QuantiFERON-positive uveitis: implications for diagnosis.Clinical & translational immunology · 2020Article
Corrections and comments
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
C1q deficiency is a rare immunodeficiency, which is strongly associated with the development of systemic lupus erythematosus (SLE). A mutation in one of the C1q genes can either lead to complete deficiency or to low C1q levels with C1q polypeptide in the form of low-molecular weight (LMW) C1q. Patients with C1q deficiency mainly present with cutaneous and renal involvement. Although less frequent, neuropsychiatric (NP) involvement has also been reported in 20% of the C1q-deficient patients. This involvement appears to be absent in other deficiencies of early components of the complement classical pathway (CP) (C1r/C1s, C2, or C4 deficiencies). We describe a new case with C1q deficiency with a homozygous G34R mutation in C1qC-producing LMW-C1q presenting with a severe SLE flare with NP involvement. The serum of this patient contained very low levels of a LMW variant of C1q polypeptides. Cell lysates contained the three chains of C1q, but no intact C1q was detected, consistent with the hypothesis of the existence of a LMW-C1q. Furthermore, we provide a literature overview of NP-SLE in C1q deficiency and hypothesize about the potential role of C1q in the pathogenesis of NP involvement in these patients. The onset of NP-SLE in C1q-deficient individuals is more severe when compared with complement competent NP-SLE patients. An important number of cases present with seizures and the most frequent findings in neuroimaging are changes in basal ganglia and cerebral vasculitis. A defective CP, because of non-functional C1q, does not protect against NP involvement in SLE. The absence of C1q and, subsequently, some of its biological functions may be associated with more severe NP-SLE.
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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.