Complement deficiencies

In passive immunotherapy immune globulin (Ig) is an effective replacement in most forms of antibody deficiency (14). In the past, plasma was used instead of immune globulin, but plasma is rarely indicated in the 1990s because of the risk of disease, particularly AIDS, transmission. Because plasma contains many factors in addition to immunoglobulins (Igs), plasma is, however, of particular value in patients with protein-losing enteropathy, complement deficiencies, and refractory diarrhea. 

Morgan B.P Walport M.J. (1991) Complement deficiency and disease. Immunol Today, 12, 301— 306. 

Immunosuppression—anatomic or functional asplenia, sickle cell disease, alcoholism, cirrhosis, immunoglobulin or complement deficiency cancer, HIV/AIDS, debilitated state of health... 

Complement deficiency and susceptibility to disseminated Neisserial infections... 

Administer MPSV4 to children aged 2-10 years with terminal complement deficiencies or anatomic or functional asplenia and certain other high risk groups. See/WMW 2005 54(No. RR-7) 1-21. 

A. thaliana AtNrampS belongs to a family of broad specificity membrane metal transporters and can complement deficiencies in manganese and iron transport in yeast (Thomine et al., 2000). It is expressed in both the roots and the aerial parts of plants, and is induced in roots by Fe starvation. Transgenic Arabidopsis plants over-expressing the gene under the control of the CaMV 35S promoter displayed Cd hypersensitivity and increased Fe accumulation, but the accumulation of Cd was not affected. 

Individuals with asplenia, complement deficiency, or properdin deficiency... 

The strong association between human lupus and a deficiency of the early components of the classic complement system provides valuable guidance in the study of the pathogenesis of SLE. Complete deficiency of Clq is almost always associated with lupus (over 90%) (S19). Defects in each of the three Clq peptide chains encoded by three genes in tandem on chromosome 1 have been described in human lupus. Seventy-five percent of patients with complement deficiency of C4 have lupus. The deficiency of any of four alleles of the two C4 genes, C4A and C4B, is associated with lupus. The deficiency of C4A appears to be the closest association (F4). About 33% of European patients with C2 deficiency also have lupus (W2). These patients also tend to have a higher frequency of anti-Ro autoantibody (P6). 

K8. Korb, L. C., andAhearn, J. M., Cutting Edge Clq binds directly and specifically to surface blebs of apoptotic human keratinocytes Complement deficiency and systemic lupus erythematosus revisited. J. Immunol. 158, 4525-4528 (1997). 

Complement deficiency is a condition of absent or suboptimal fnnctioning of any one of the... 

McGavran PD, Butterick CJ, Brody AR. 1989. Tritiated thymidine incorporation and the development of an interstitial lesion in the bronchiolar-alveolar regions of the lungs of normal and complement deficient mice after inhalation of chrysotile asbestos. JEPTO 9 377-391. 

Modified from Colten HR, Rosen FS. Complement deficiencies. Aimu Rev Immunol 1992 10 809-34. 

Complement deficiencies are associated with several diseases. Alternative pathway deficiencies are rare, but when they exist more than one-half of factor D or properdin-deficient individuals suffer from Neisseria infections of which 75% are fatal. Individuals with deficiencies in the MAC components, e.g., C5, C6, Cl, and C8, are also susceptible to infection with Neisseria. Deficiencies in C1, C4, and C2 are associated with systemic lupus erythematosus and glomerulonephritis. Hereditary angioedema, a disease characterized by recurrent submucosal and subcutaneous edema, is caused by a deficiency in Cl inhibitor. Complexes and interactions similar to those of the complement system are also characteristic of the clotting system (Chapter 36). 

Thus, although the basic biochemical mechanisms by which a particle activates serum opsonins are not yet established, it is known that complement deficiency is frequently associated with increased susceptibility to infections (A3). Measurement of serum activation is one way of detecting phagocytic dysfunction as a consequence of opsonic disorders (SIO), such as C3 or immunoglobulin deficiency. 

Complement deficiencies (C1q, C2, C3, C4) Deletions, insertions, and point mutations in the complement factor encoding genes SLE... 

Deficiencies of early components of the classical complement pathway (e.g. Clq, Clr/Cls, C2, C3, C4) are associated with the development of systemic lupus erythematosus. The prevalence of systemic lupus erythematosus in homozygous Clq, C4, or C2 deficiency is approximately 90%, 75%, and 10-30%, respectively. The strongest susceptibility genes for the development of systemic lupus erythematosus in humans are null mutants of Clq. Several findings are compatible with the hypothesis that complement deficiency causes systemic lupus erythematosus by the failure to clear immune complexes and apoptotic cells (Botto, 2001). In consequence, uncleared apoptotic bodies may provide the source of the autoantigens that drive the autoimmune response of systemic lupus erythematosus. 

Complement system. A group of serum proteins with the capacity to interact with each other when activated. The chain reaction of the activated complement components results in formation of a lytic complex and several biologically active peptides of low molecular weight (anaphylatoxins). The system can be activated by antigen-antibody complexes (classical pathway) and by other components, e.g. bacteria (alternative pathway). As an effector mechanism of the humoral immune response, the activated complement system facilitates opsonization, phagocytosis, and lysis of cellular antigens. Some defects in components of complement are associated with autoimmune diseases (see complement deficiency). 

Complement deficiency. Congenital deficiencies in the various components of the complement system. Rheumatic disorders (mainly systemic lupus erythematosus) are associated with deficiencies of the early components of the classical pathway. More than 30% of individuals with C2 deficiency and nearly 80% with either C3 or C4 deficiency have an autoimmune manifestation. 

Botto M (2001) Links between complement deficiency and apoptosis. Arthritis Res, 3 207-210. 

Fijen CA, Kuijper EJ, te Bulte MT, Daha MR, Dankert J 1999 Assessment of complement deficiency in patients with meningococcal disease in The Netherlands. Clin Infect Dis 28 98-105... 

Casanova I think it is great news for the field that you have found Mendelian cases of lupus. There was a case of complement deficiency that you noted, but I think there are a few cases of patients with chronic granulomatous disease and lupus in the literature. Perhaps that is something you could add to your hst. 

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