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Genetic deficiency of the second component of complement (C2) associated with systemic lupus erythematosus

Relation of the complement abnormality and disease manifestations
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      Abstract

      Systemic lupus erythematosus (SLE) was documented in a patient with genetic deficiency of the second complement component (C2). A review of disease manifestations in this patient and in others with SLE and genetic C2 deficiency previously reported on suggest that many findings such as fever, skin lesions, central nervous system involvement, the presence of autoantibodies and leukopenia occur in patients with SLE independent of whether or not they have C2 deficiency. However, renal disease appears mild in patients with genetic C2 deficiency despite the presence of immunoglobulins and complement components demonstrated in glomeruli by immunofluorescent microscopy. Electron microscopic study of glomeruli from the patient we describe showed electron-dense deposits consistent with the immunofluorescent findings. Tubuloreticular inclusion bodies identical to those previously seen in patients with SLE were also observed. Analysis of serum complement components and tissue deposition of complement components suggests activation of both the classic and alternative complement pathways in patients with C2 deficiency. The clinical, pathologic and complement findings in this group of patients support the hypothesis that although SLE is similar in patients with and without C2 deficiency, renal disease remains mild when this classic pathway component is not present. Histocompatibility antigen analysis of the family of the propositus confirmed the association of C2 deficiency with an A10, B18 haplotype, and with a haplotype not previously associated with C2 deficiency, AW32, BW40. One sibling with this latter haplotype has normal C2 levels, presumably as a result of recombination.
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