Skip to search formSkip to main contentSkip to account menu

C1q DEFICIENCY

Known as: C1QD 
Lack of production of functional C1q proteins, due to a genetic defect. Virtually 100% of patients with a C1q deficiency will develop a severe… 
National Institutes of Health

Related topics

Related topics

5 relations
Autoimmune DiseasesAutosomal recessive inheritanceC1QB, 455G-AC1QC, 41C-T

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Identification of a novel non-coding mutation in C1qB in a Dutch child with C1q deficiency associated with recurrent infections.
2011
2011
Investigação de imunodeficiências primárias em pacientes com lúpus eritematoso sistêmico juvenil
2010
2010
Homozygosity for a novel mutation in the C1q C chain gene in a Turkish family with hereditary C1q deficiency.
Hereditary complete deficiency of complement component C1q is associated with a high prevalence of systemic lupus erythematosus… 
2008
2008
C1q deficiency promotes the production of transgenic-derived IgM and IgG3 autoantibodies in anti-DNA knock-in transgenic mice
2006
2006
The effect of C1q deficiency on atherosclerosis in LDL - receptor Gene knock-out mice.
2006
2006
Reduced expression of C1q‐mRNA in monocytes from patients with systemic lupus erythematosus
Inherited C1q deficiency is associated strongly with the development of systemic lupus erythematosus (SLE). The aim of our study… 
2004
2004
Monocytosis and accelerated activation of lymphocytes in C1q‐deficient autoimmune‐prone mice
C1q deficiency has been shown to accelerate spontaneous autoimmunity in mice. We studied the time course of activation of… 
Review
2002
Review
2002
[Anti-SSA/Ro and anti-SSB/La antibodies. What's new?].
Anti-SSA/Ro and anti-SSB/La autoantibodies recognize different epitopes on polypeptides associated with small RNAs called scYRNA… 
1993
1993
Studies of immune response in a patient with selective complete C1q deficiency.
Immune response in a six-year-old girl with a rare complement defect, namely selective complete C1q deficiency, was studied. Her… 
1982
1982
A complete selective C1q deficiency in a patient with discoid lupus erythematosus (DLE).
A 32 year old male patient with discoid lupus erythematosus (DLE) was found to have a complete, selective deficiency of C1q… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)