complement deficiencies

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complement deficiencies

Complement deficiencies

Genetically Determined Deficiencies of Complement Components

Complementation of aprataxin deficiency by base excision repair enzymes

Familial relapsing haemolytic uraemic syndrome and complement factor H deficiency.

P140Ischemia reperfusion injury and resulting progressive kidney fibrosis are attenuated by complement deficiency

Response gene to complement 32 deficiency causes impaired placental angiogenesis in mice

Genetic and Molecular Definition of Complementation Group D in MHC Class II Deficiency

Mutations in PEX10 Is the Cause of Zellweger Peroxisome Deficiency Syndrome of Complementation Group B

Membranous nephropathy in a patient with hereditary complete complement C4 deficiency

Assessment of Complement Deficiency in Patients with Meningococcal Disease in the Netherlands

Clinical variability and characteristic autoantibody profile in primary C1q complement deficiency

Molecular complementation of IL-12Rβ1 deficiency reveals functional differences between IL-12Rβ1 alleles including partial IL-12Rβ1 deficiency

The Bacillus subtilis ctaB paralogue, yjdK, can complement the heme A synthesis deficiency of a CtaB-deficient mutant

Complementation of the Nuclear Antisense rbcS-Induced Photosynthesis Deficiency by Introducing an rbcS Gene into the Tobacco Plastid Genome

Molecular Basis for Methionine Synthase Reductase Deficiency in Patients Belonging to the cblE Complementation Group of Disorders in Folate/Cobalamin Metabolism

Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes

An S/MAR-based infectious episomal genomic DNA expression vector provides long-term regulated functional complementation of LDLR deficiency

Complement C4 Deficiency and HLA Homozygosity in Patients with Frequent Intraoral Herpes Simplex Virus Type 1 Infections


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A range of relatively rare disorders of the complement system, in some cases because of inadequate secretion, in others because there is mutation in the gene encoding one of the components. Deficiencies of the classic pathway cause a predisposition to immune complex diseases because of the role of complement in clearance of immune complexes. A general consequence is also impaired opsonization with a greater chance of infection. C1s deficiency is associated with early-onset multiple autoimmune diseases; homozygous deficiency of C4a is associated with systemic lupus erythematosus and with type I diabetes; homozygous deficiency of C4b is associated with susceptibility to bacterial meningitis; complement C9 deficiency is associated with increased susceptibility to meningococcal infections; complement factor H deficiency can cause various phenotypes, including asymptomatic, recurrent bacterial infections and renal failure. See also C3 nephritic factor.

Subjects: Medicine and Health.

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