has material basis in germline mutation in C3 classic complement early component deficiency complement component 3 deficiency https://www.malacards.org/card/complement_component_3_deficiency https://www.malacards.org/card/complement_component_3_deficiency_autosomal_recessive OMIM:613779 UMLS:C3151071 classic complement early component deficiency caused by mutation in C3 GARD:0016489 A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease. C3d NANDO:2200782 MESH:C565169 C3 classic complement early component deficiency MEDGEN:462421 NCIT:C9468 Orphanet:280133 complement component 3 deficiency, autosomal recessive DOID:8354 C3 deficiency MONDO:0013417