Polymorphism of the complement components in human pathology

M. Brai, P. Accardo, D. Bellavia

Research output: Contribution to journalArticle

Abstract

The complement system is an important part of non clonal or innate immunity that collaborates with acquired immunity to kill pathogens and to facilitate the clearance of immune complexes. The complement is made up of 20 distinct plasma proteins and 9 different membrane proteins. Three components, factor B, C2 and C4 (with 2 isotypes), are coded by polymorphic HLA-linked genes and are sometimes referred to as class III antigens, inherited as compact units called complotypes. The C4 genes are the most polymorphic, including a common null allele (Q0) at both the C4A and C4B loci. Other polymorphic complement factors (not linked to HLA) are C3 (2 common alleles), C6 and C7 (closely linked, with 3 and 2 alleles, respectively). A certain degree of polymorphism has also been described for complement receptors and membrane control proteins. No differences in functional activity are usually detected among different alleles. Immune-mediated diseases are associated with C4Q0, in particular: systemic lupus erythematosus and discoid-systemic lupus erythematosus, insulin-dependent diabetes mellitus, liver cirrhosis, celiac disease and IgA/IgG4 deficiency. Even if optimal HLA markers do become available, genetic counselling is usually not the ultimate goal for dealing with most of the HLA-associated common diseases, although their study could help to better delineate disease pathogenesis.

Original languageEnglish
Pages (from-to)167-172
Number of pages6
JournalAnnali Italiani di Medicina Interna
Volume9
Issue number3
Publication statusPublished - 1994

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Alleles
Pathology
Systemic Lupus Erythematosus
Membrane Proteins
Discoid Lupus Erythematosus
IgA Deficiency
Complement Receptors
Immune System Diseases
Genetic Counseling
Celiac Disease
Adaptive Immunity
Antigen-Antibody Complex
Type 1 Diabetes Mellitus
Innate Immunity
Liver Cirrhosis
Genes
Blood Proteins
Immunoglobulin G
Antigens

ASJC Scopus subject areas

  • Internal Medicine

Cite this

Polymorphism of the complement components in human pathology. / Brai, M.; Accardo, P.; Bellavia, D.

In: Annali Italiani di Medicina Interna, Vol. 9, No. 3, 1994, p. 167-172.

Research output: Contribution to journalArticle

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