A Genetic Defect of the C1q Subcomponent of Complement Associated with Childhood (Immune Complex) Nephritis

Abstract

OF the clinical syndromes associated with isolated defects of components of the complement system, 1 , 2 immune-complex diseases with vasculitis and lupus-like syndromes have been associated with genetic defects of C1r, 3 C4, 4 and C2.5 Defects of other components may cause recurrent bacterial infections (C3 or C3b inhibitor), recurrent infections due to neisserian organisms (C5, C6, C7, and C8), or hereditary angioneurotic edema (C1 inhibitor).A complete absence of C1q has been reported in a child who presented with skin disease and recurrent sepsis, 6 but the genetic basis of this abnormality is uncertain.7 This paper reports the occurrence of a defect of the . . .