Complement System Deficiency Diseases

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

Classical Pathway Deficiency

Alternative Pathway Deficiency

Alternative Pathway Deficiency

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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

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.

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