Clinical presentations and molecular basis of complement C1R mutation in a large turkish family

Introduction Inherited deficiencies of complement components can result in autoimmunity. Early age of onset, prominent cutaneous manifestations, and presence of anti-Ro antibodies are features suggestive of a complement deficiency. SLE-associated deficiencies in subcomponents of the C1 complex, C1r and/or C1s, were described 4 decades ago, however the molecular basis and functional aspects of the complement deficiency have not been clearly determined.