[Hereditary deficiency of the 4th component of complement (C4) associated with a lupic syndrome].
A 2 year-old girl presented with bacterial meningitis followed by a lupus erythematosus syndrome consisting of erythematous rash, Raynaud's phenomenon and mutilating cicatricia atrophy; high speckled antinuclear antibodies and anti-Sm and anti-Ro antibodies titers; a selective absence of C4; moderate mesangial proliferation with IgM and C1q mesangial deposits. Study of the family revealed a linkage of C4 deficiency with the HLA A1 B17/BfF haplotype.
D000974:Antibodies, Antinuclear / Q000032:analysis; D002648:Child; D003181:Complement C4 / Q000172:deficiency*; D005260:Female; D006801:Humans; D007668:Kidney / Q000276:immunology / Q000473:pathology; D008180:Lupus Erythematosus, Systemic / Q000150:complications* / Q000175:diagnosis / Q000276:immunology; D010375:Pedigree; D013577:Syndrome
D000974:Antibodies, Antinuclear; D003181:Complement C4
Déficit héréditaire du quatrième composant du complément (C4), associé à un syndrome lupique.