Complement deficiency Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins . Because there are redundancies in the immune system , many complement disorders are never diagnosed, some studies estimated that less than 10% are identified. Hypocomplementemia may be used more generally to refer to decreased complement levels while secondary complement disorder means decreased complement levels that are not directly due to a genetic cause but secondary to another medical condition .Signs and symptoms The following symptoms are consistent with complement deficiency in general:Complications for encapsulated organisms is crucial for preventing infections in complement deficiencies. Among the possible complications are the following: Deficiencies of the terminal complement components increases susceptibility to infections by Neisseria .Causes The cause of complement deficiency is genetics . The majority of complement deficiencies are autosomal recessive , while properdin deficiency could be X-linked inheritance , and finally MBL deficiency can be both.Inherited Acquired hypocomplementemia may occur in the setting of bone infections , infection of the lining of the heart , and cryoglobulinemia . Systemic lupus erythematosus is associated with low C3 and C4 Membranoproliferative glomerulonephritis usually has low C3.Mechanism The mechanism of complement deficiency consists of: C2 : In regard to C2 deficiency, about 5 different mutations in the C2 gene are responsible. In turn, immune function decreases and infection opportunities increase. One of the most common mutations deletes 28 DNA nucleotides from the C2 gene. Therefore, no C2 protein which can help make C3-convertase is produced. Ultimately, this delays/decreases immune response . C3 : In terms of deficiency of C3, it has been found that 17 mutations in the C3 gene cause problems with C3. This rare condition mutates or prevents C3 protein from forming, lowering the immune system's ability to protect. C4 : C4 deficiency is highly associated with systemic lupus erythematosus . Aβ42 , a protein involved in Alzheimer's disease , can cause activation of C4. At least one study indicates that the genetic variation of C4 plays a role in schizophrenia .Diagnosis Among the diagnostic tests that can be done in determining if an individual has complement deficiencies is: CH50 measurement Immunochemical methods/test C3 deficiency screening Mannose-binding lectin Plasma levels/regulatory proteinsTypes Disorders of the proteins that act to inhibit the complement system can lead to an overactive response, causing conditions such as hereditary angioedema Disorders of the proteins that act to activate the complement system can lead to an underactive response, causing greater susceptibility to infections.Treatment In terms of management for complement deficiency, immunosuppressive therapy should be used depending on the disease presented. A C1-INH concentrate can be used for angio-oedema.Pneumococcus and haemophilus infections prevention can be taken via immunization for those with complement deficiency. Epsilon-aminocaproic acid could be used to treat hereditary C1-INH deficiency, though the possible side effect of intravascular thrombosis should be weighed.Epidemiology C2 deficiency has a prevalence of 1 in about 20,000 people in Western countries .
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