ISSN:0883-0185    

DOI:10.3109/08830189309051168

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

摘要:

Genetic deficiency of one of the early components of the classical pathway of complement (C1q, C1r, C1s, C4 and C2) is often associated with clinical symptoms and immunochemical abnormalities common in idiopathic autoimmune diseases, such as lupus erythematosus, but also with an increased incidence of various, local and generalized infections. These observations are consistent with the current view of the complement system's role in handling immune complexes and combating microbial invasion. However, the absence of absolute correlations in these experiments of nature suggests that genetic defects of the classical pathway act only epistatically to other host factors and the primary etiologies of the associated diseases.In contrast, the strong association of properdin and factor D deficiency with serious infections caused by encapsulated Gram-negative bacteria suggests a more immediate involvement of the alternative pathway in a specific segment of immunity and its pathology. This concept is also supported by the primordial role of the alternative pathway in the evolution of the complement system and the apparent lethality of factor B deficiency. The gene structures of most of these early components have now been elucidated providing the basis for detailed analyses of the defective alleles, the determination of carrier status, and prenatal diagnosis.

ISSN:0883-0185    

DOI:10.3109/08830189309051169

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

摘要:

Inherited deficiency of complement C3 has been described in guinea pigs, dogs and 20 humans. Homozygous deficiency of C3 is associated with recurrent pyogenic infections by encapsulated bacteria, especiallyH. influenzae, S. pneumoniaeandN. meningitidis.In dogs and humans there is also an association with development of glomerulonephritis of the mesangiocapillary type. Some patients also develop transient erythematous rashes in association with pyogenic infections, with histology showing predominantly neutrophil infiltration and small vessel vasculitis. Studies of antibody responses, mainly in experimental animals have shown impaired primary and secondary responses to both thymus-dependent and -independent antigens at low immunizing doses, with a reduced switch from IgM to IgG production. The molecular basis of C3 deficiency has been established in two humans with C3 deficiency. In one it was due to a splice junction mutation and in another, to a partial gene deletion. These mutations are not compatible with the production of functional C3 in any tissue. Such patients with absolute C3 deficiency are a valid model for understanding the physiological role of C3in vivo.

ISSN:0883-0185    

DOI:10.3109/08830189309051170

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

ISSN:0883-0185    

DOI:10.3109/08830189309051171

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

ISSN:0883-0185    

DOI:10.3109/08830189309051172

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

ISSN:0883-0185    

DOI:10.3109/08830189309051173

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor

ISSN:0883-0185    

DOI:10.3109/08830189309051167

出版商:Taylor&Francis    

年代:1993

数据来源: Taylor