01713nas a2200337   4500000000100000008004100001260000900042653002600051653002300077653003500100653001800135653001800153653002400171653002200195653002200217653001000239653001700249653001100266653001700277653001200294653002300306653001300329653002600342100001400368700001500382245007400397300001100471490000700482520087200489022001401361       1981                            d  c198110aArthritis, Rheumatoid10aChromosome Mapping10aChromosomes, Human, 6-12 and X10aComplement C210aComplement C410aComplement Factor B10aDiabetes Mellitus10aEnzyme Precursors10aGenes10aHLA Antigens10aHumans10aHypertension10aleprosy10aMultiple Sclerosis10aPedigree10aPolymorphism, Genetic1 aRittner C1 aBertrams J00aOn the significance of C2, C4, and factor B polymorphisms in disease.  a235-470 v563 a<p>In this review article, recent evidence is presented that some diseases like insulin-dependent diabetes mellitus, multiple sclerosis, and idiopathic membranous nephropathy, which are primarily associated with HLA-D,DR, are also related to the rare C2, C4, and Factor B alleles. Circumstantial evidence is available that at least some of these rare variants may be functionally deficient. Based on the concept of functionally interacting gene clusters, mutant complement genes may lead to impaired effector mechanisms in virus neutralization or lysis of virus-infected cells. Other mechanisms such as alteration of vascular permeability may be involved in the development of proliferative retinopathy and familial hypertension. In lepromatous lepra, an impaired cell-mediated lysis of M. leprae may be related to the hemolytically inactive C4F1 allelic product.</p>  a0340-6717