Complement 4 deficiency

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Complement 4 deficiency
Specialty Immunology

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. Furthermore, it is a crucial factor in connecting the recognition pathways of the overall system instigated by antibody-antigen (Ab-Ag) complexes to the other effector proteins of the innate immune response. For example, the severity of a dysfunctional complement system can lead to fatal diseases and infections. Complex variations of it can also lead to schizophrenia. Yet, the C4 protein derives from a simple two-locus allelic model, the C4A-C4B genes, that allows for an abundant variation in the levels of their respective proteins within a population. Originally defined in the context of the Chido/Rodgers blood group system, the C4A-C4B genetic model is under investigation for its possible role in schizophrenia risk and development.

Complement tests
C4 (C) FB (A) C3 CH50 Conditions
 · PSG, C3 NeF AA
 · · HAE, C4D
 · · · TCPD
 ·/↓ SLE
inflammation

It can present with lupus-like symptoms. [2]

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References

  1. Parija (2009). Textbook of Microbiology & Immunology. Elsevier India. pp. 125–. ISBN   978-81-312-2163-1 . Retrieved 13 November 2010.
  2. David L. Rimoin; J. Michael Connor; Reed E. Pyeritz; Bruce R. Korf (15 December 2006). Principles and Practice of Medical Genetics: Continually Updated Online Reference. Elsevier Health Sciences. pp. 1860–. ISBN   978-0-443-06870-6 . Retrieved 13 November 2010.
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