PMID: 46731Mar 1, 1975

Inherited C2 deficiency and systemic lupus erythematosus: studies on a family

Annals of Internal Medicine
C K OsterlandP H Schur

Abstract

A patient is described in which an inherited defect in the synthesis of C2 complement component coexisted with the disease systemic lupus erythematosus. The family studies show evidence of the autosomal recessive nature of the inheritance of the C2 synthesis defect. Of particular interest was the finding of a great-aunt who also had homozygous C2 deficiency. This great-aunt suffered from discoid lupus erythematosus as well. The occurrence of various autoantibodies in the serum from the family members, the typing for blood groups, HL-A antigens, and some serum protein markers are reported and discussed. The C2 deficiency may be a critical defect in the host defenses to infection that predisposed to the development of autoimmune disease.

References

Jun 1, 1978·Arthritis and Rheumatism·P H Schur
Jan 1, 1982·Journal of Clinical Immunology·H A SampsonP J Baker
Feb 1, 1981·Medizinische Monatsschrift für Pharmazeuten·G Cohnen
Jul 4, 1985·The New England Journal of Medicine·F S ColeH R Colten
Apr 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·T MeoR Ceppellini
Sep 1, 1978·The Journal of Experimental Medicine·C NerlG Valet
Jan 1, 1978·Australian and New Zealand Journal of Medicine·J P Edmonds
Feb 21, 1976·British Medical Journal
Oct 1, 1976·The Journal of Clinical Investigation·D GlassP H Schur
Dec 1, 1977·International Journal of Dermatology·T L Ray, K D Wuepper
Jan 1, 1976·Transplantation Reviews·C JersildN K Day
Aug 1, 1988·Journal of the American Academy of Dermatology·J DeSpain, D P Clark
Oct 1, 1975·The American Journal of Medicine·S R Block, C L Christian
Sep 1, 1983·The British Journal of Dermatology·F C PowellW P Su
Sep 1, 1982·The British Journal of Dermatology·C M LawrenceJ P Byrne
Aug 10, 2016·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Shu Man Fu
Jan 1, 1986·International Journal of Dermatology·S R HymesR E Jordon
Jul 21, 2010·Journal of Cutaneous Medicine and Surgery·Alexandra Balma-Mena, Nhung Ho
Sep 1, 1976·Transfusion·J M MichaelH Chaplin
Oct 1, 1983·Arthritis and Rheumatism·T T ProvostM Reichlin

Related Concepts

Autoantibodies
Immunologic Deficiency Syndromes
Calcium
Complement Component 2 Deficiency
Serum Proteins
Thyroid Hormone Plasma Membrane Transport Defect
HLA Antigens
Plasma Protein Binding Capacity
Genetic Inheritance
Magnesium Deficiency

Related Feeds

Autoimmune Diseases

Autoimmune diseases occur as a result of an attack by the immune system on the body’s own tissues resulting in damage and dysfunction. There are different types of autoimmune diseases, in which there is a complex and unknown interaction between genetics and the environment. Discover the latest research on autoimmune diseases here.