C3 Deficiency

A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. (NCI Thesaurus)

YOU MAY ALSO LIKE

C2orf44 wt Allele

Human C2orf44 wild-type allele is located in the vicinity of 2p23.3 and is approximately 20 kb in length. This allele, which encodes…

C2orf44 Gene

This gene may play a role in phosphatase regulation.

C2H2 Zinc Finger

One of three structural motifs observed in DNA binding domains of zinc proteins. Domains in DNA- and RNA-binding proteins that contain amino…

C2 Vertebra

The second of the seven cervical vertebrae.

C2 Domain

Some isozymes of protein kinase C (PKC) contain a domain, known as C2, of about 116 amino-acid residues which is located between…

C1QA wt Allele

Human C1QA wild-type allele is located in the vicinity of 1p36.12 and is approximately 3 kb in length. This allele, which encodes…