Text Size:AAA

Complement System Deficiency Diseases

Complement System
Complement System Overview
- What is Complement System
- How Does Complement System Work
- Complement Protein Fragment Nomenclature
- Complement System Component / Protein Regulator and Receptor
- Complement Component / Protein of Complement System
- Complement Regulator of Complement System: RCA/CCP family
- Complement Regulator of Complement System: Others
- Complement Receptors of Complement System
Complement Genetic Feature
- Regulator of complement activation / RCA Gene Cluster
- Complement MAC Gene Cluster
- Complement MHC Class III Gene Cluster
Complement Activation Pathways
- Complement Activation Definition
- Complement Activation Classical Pathway
- Complement Activation Alternative Pathway
- Complement Activation Lectin Pathway
- Serine Proteases of Complement Activation Pathway
Complement System Role
- Complement System and Direct Interactions
- Complement System Function in Immune System
- Complement-Dependent Cytotoxicity/CDC
- Therapeutic Target of Complement System
- Complement System and Toll-like Receptors / TLRs
- Complement System and Coagulation
- Complement Cascade and Inhibitors
- Complement Evasion of Pathogens
- Complement System and Antimicrobial Peptides/AMPs
Complement System and Diseases
- Complement System and Cancer
- Complement System and Rheumatic Diseases
- Complement Receptor 1 / CR1 and Alzheimer's Disease / AD
- Complement System and Autoimmune Diseases
- Complement System and Age-Related Macular Degeneration/AMD
- Complement System and Schizophrenia
Complement System Deficiency Diseases
- Classical Pathway Deficiency
- Alternative Pathway Deficiency
- Complement Receptor Deficiency
- Mannose-Binding Lectin / MBL Pathway Deficiency
- Membrane Attack Complex/MAC Deficiency
- Total Complement Activity / CH50 / CH100
Complement System Structure
- Complement Membrane Attack Complex/MAC
- Complement Component / Protein Structure
- Complement Regulator Structure
- Complement Receptor Structure
- Collectins and Ficolins: Humoral Lectins of the Innate Immune System
Complement System Effector Functions
- Complement Mediated Opsonization
- Complement Mediated Cell Lysis
- Complement Mediated Phagocytosis
- Complement Mediated Inflammation
- Complement Mediated Chemotaxis
- Complement Mediated Antibody Formation
Anti-Complement Antibody Products

Complement System Deficiency Diseases (Proteins | Antibodies | Genes | ELISA Kits)


Other Related Products

C3AR1 C5AR1 CD93

Complement System Deficiency Diseases Background

Although the complement system was first described at the turn of the twentieth century, it was not until 1960 that the first patient with a genetically determined complement deficiency was identified. Since then, deficiencies have been described for nearly all of the components of the complement system.

Individuals with genetically determined complement deficiencies have a variety of clinical presentations. Most patients present with an increased susceptibility to infection, others with a variety of rheumatic diseases, still others with angio-oedema, and in rare instances, patients may even be asymptomatic. The elucidation of the pathophysiological basis for the different clinical presentations of complement-deficient individuals has contributed to a better understanding of the physiological role of complement in normal individuals.

Acquired deficiency of complement is seen in diseases in which there is extensive activation of the complement system. Complement system deficiency diseases in which immune complexes play a prominent role, such as SLE and essential mixed cryoglobulinaemia, are associated with prolonged activation of the classical pathway and thus with reduced levels of C1, C4 and C2. Septic shock and extracorporeal circulation may be associated with sufficient alternative pathway activation to result in low C3 and factor B levels. Similarly, autoantibodies to complement proteins, such as C1q, the C3bBb convertase enzyme (C3 nephritic factor) and C1 inhibitor, can lead to acquired complement deficiency.

Hereditary Complement System Deficiency in Humans List

Deficiency Reported Cases or Incidence Primary Clinical Manifestations
C1q 41 SLE-like syndrome, encapsulated bacterial infections
C1r/s 19 SLE-like syndrome, encapsulated bacterial infections
C2 1:10,000 to 1:20,000 SLE-like syndrome, encapsulated bacterial infections
C3 27 Bacterial infections, SLE-like syndrome
C4 26 SLE-like syndrome, encapsulated bacterial infections
C1-INH 2-10:100,000 Angioedema
MBL 2-7% UK population Increased susceptibility to bacterial infections
MASP-2 9 Caucasians Unknown
Factor B 1 Meningococcal infection
Factor D <10 Meningococcal and encapsulated bacterial infections
Properdin >100 Meningococcal infection
Factor H 22 hemolytic uremic syndrome 22 hemolytic uremic syndrome
Factor I 31 Encapsulated bacterial infections
C5 30 (0.0014% Japan) Meningococcal infection
C6 80 (0.0027% Japan) Meningococcal infection
C7 70 (0.0041% Japan) Meningococcal infection
C8 70 (0.0027% Japan) Meningococcal infection
C9 1:1000 and 0.0027% Japan Meningococcal infection (less than C5-C8 deficiency)
CR3/CR4 1:1,000,000 Leukocyte adhesion deficiency
CD59 1-2:1,000,000 Paroxysmal nocturnal hemoglobuinuria
Targeted Therapy Membrane Attack Complex / MAC

Complement System Deficiency Diseases References

1. Morgan B P, et al. (1991). Complement deficiency and disease. Immunology today, 12(9), 301-306.
2. Botto M. (1999). C1q knock-out mice for the study of complement deficiency in autoimmune disease. Experimental and clinical immunogenetics, 15(4), 231-234.
3. Sjöholm A G, et al. (2006). Complement deficiency and disease: an update. Molecular immunology, 43(1), 78-85.
4. Walport M J, et al. (1997). Complement Deficiency and Autoimmunitya. Annals of the New York Academy of Sciences, 815(1), 267-281.
5. Ellison III R T, et al. (1983). Prevalence of congenital or acquired complement deficiency in patients with sporadic meningococcal disease. New England Journal of Medicine, 308(16), 913-916.