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Complement deficiency is an immunodeficiency of absent or suboptimal functioning of one of the complement system proteins. [4] Because of redundancies in the immune system , many complement disorders are never diagnosed.
Complement 4 deficiency; Specialty: Immunology: Complement tests C4 ... Complement 4 deficiency is a genetic condition affecting complement component 4. [1]
Complement component 4 (C4), in humans, is a protein involved in the intricate complement system, originating from the human leukocyte antigen (HLA) system. It serves a number of critical functions in immunity, tolerance, and autoimmunity with the other numerous components.
Complement component 5 is a protein that in humans is encoded by the C5 gene. [5] Complement component 5 is involved in the complement system. It is cleaved into C5a and C5b: C5a plays an important role in chemotaxis. [6] C5b forms the first part of the complement membrane attack complex. Deficiency is thought to cause Leiner's disease.
Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC). It involves deficiencies of C5, C6, C7, and C8. (While C9 is part of the MAC, and deficiencies have been identified, [1] it is not required for cell lysis. [2]) People with this condition are prone to meningococcal infection. [3]
The trimer provides a surface for interaction between the antigen-antibody complex and other complement components. The alpha chain may be cleaved to release C4 anaphylatoxin, a mediator of local inflammation. Deficiency of this protein is associated with systemic lupus erythematosus and type I diabetes mellitus.
Type 1 von Willebrand Disease in dogs. Type 1 von Willebrand Disease is the most common type, and also the mildest. It occurs when dogs have a mild deficiency in all the proteins making up their ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.