[Hereditary C2 deficiency with systemic lupus erythematosus: clinical and immunologic studies in a family (author's transl)].
A case of systemic lupus erythematosus associated with an homozygous deficiency in the second fraction of complement is reported and compared to previous reports of the literature. The high incidence of infections in these patients is outlined. The defective gene in this family was associated with the HLA A10B18 haplotype and the propositus was homozygous at the HLA-D locus. Familial study allowed the detection of 3 heterozygous individuals two of them being symptomatic (vascular purpura, high incidence of bacterial infections).
D000293:Adolescent; D003175:Complement C2 / Q000172:deficiency*; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics / Q000276:immunology*; D010375:Pedigree
D003175:Complement C2; D006680:HLA Antigens
Déficit génétique de la deuxième fraction du complément avec manifestations lupiques. Etude clinique et immunologique d'une nouvelle observation familiale.