Inherited deficiency of the third component of complement associated with recurrent pyogenic infections, circulating immune complexes, and vasculitis in a Dutch family.
A family is described in which 3/11 children showed a homozygous deficiency of C3, and both parents and six other children had subnormal levels of C3. The three children with selective C3 deficiency suffered repeatedly from bacterial infections, whereas the parents and the other siblings were clinically healthy. During infectious episodes the patients showed a maculopapular skin rash, and at such times immune complexes were present in the serum. Biopsy specimens of the skin lesions showed the picture of leukocytoclastic vasculitis.
D000293:Adolescent; D000328:Adult; D000936:Antigen-Antibody Complex / Q000276:immunology*; D001424:Bacterial Infections / Q000235:genetics / Q000276:immunology*; D003176:Complement C3 / Q000172:deficiency*; D003872:Dermatitis / Q000235:genetics / Q000276:immunology; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D017099:IgG Deficiency; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012008:Recurrence; D014657:Vasculitis / Q000235:genetics / Q000276:immunology*
D000936:Antigen-Antibody Complex; D003176:Complement C3