Complement deficiencies
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Immunodeficiency Main Page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Zahir Ali Shaikh, MD[2], Anmol Pitliya, M.B.B.S. M.D.[3]
Overview
The complement system is a biochemical cascade which helps clear pathogens from an organism. It belongs to the innate immune system. Deficiencies in this cascade can lead to infections and autoimmune diseases. Complement deficiencies can be inherited or acquired (as a result of complement-consuming disease state).
Classification
| Complement Deficiencies | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Susceptibility to Infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| HIGH | LOW | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Disseminated Nisserial Infections | Recurrent Pyogenic Infections | SLE like syndrome | Atypical hemolytic uremic syndrome | Others | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Absent CH50 & AH50 hemolytic activity, defective bacterial activity | Normal CH50, Absent AH50 hemolytic activity | C3LOF,C3,AR | C1q def: C1QA, C1QB, C1QC | C3GOF, C3, AD | C1 inhibitor SERPING1, AD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| C5 def:,C5 | Properdin def:, PFC, XL | MASP2 def:, MASP2, AR | C1r def: | FactorB, GOF, CFB, AD | Membrane attack complex inhibitor def:, CD59 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| C6 def:, C6 | Factor D def:, CFD, AR | Fincolin3 def:, FCN3, AR | C1s def: | Factor H def:, CFH, AD or AR | CD55 def:, (CHAPLE disease), AR | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| C7 def:, C7+vasculitis | Factor B, CFB, LOF, AR | C2 def: | Factor H related protein def:, CFHR1-5, AR, AD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| C8 def:, C8A, C8B, C8G | C4 def:, C4A, C4B, AR | Factor I def:, AR | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| C9 def:, C9 mild susceptibility | Thrombomodulin def:, THBD, AD | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Membrane cofactor protein def:, CD46, AD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Disseminated Nisserial Infections
C5 Deficiency
- C5 deficiency is the basis of lack of phagocytosis-enhancing activity of serum. [1]
- It is associated with recurrent disseminated gonococcal infection.[2]
- Patients present with recurrent meningitis and meningococcemia, as well as recurrent purulent otitis media.[3]
References
- ↑ Miller, Michael E.; Nilsson, Ulf R. (1970). "A Familial Deficiency of the Phagocytosis-Enhancing Activity of Serum Related to a Dysfunction of the Fifth Component of Complement (C5)". New England Journal of Medicine. 282 (7): 354–358. doi:10.1056/NEJM197002122820702. ISSN 0028-4793.
- ↑ R. Snyderman, D. T. Durack, G. A. McCarty, F. E. Ward & L. Meadows (1979). "Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred". The American journal of medicine. 67 (4): 638–645. PMID 495634. Unknown parameter
|month=ignored (help) - ↑ O. Sanal, M. Loos, F. Ersoy, G. Kanra, G. Secmeer & I. Tezcan (1992). "Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families". European journal of pediatrics. 151 (9): 676–679. PMID 1396929. Unknown parameter
|month=ignored (help)