Partial complement component C4 deficiency is an autosomal dominant disorder caused by mutations of the inhibitor of the complement cascade which results in an excessive complement turn-over. The disorder is characterised by defective immune response, in particular complement dependent.
Complement component C4 deficiency | ||||
Complement component C4A deficiency | ||||
Complement component C4B deficiency | ||||
Partial complement component C4 deficiency | ||||
SERPING1 | ||||
2. |
Wisnieski JJ et al. (1987) Metabolism of C4 and linkage analysis in a kindred with hereditary incomplete C4 deficiency. |
3. |
Muir WA et al. (1984) Inherited incomplete deficiency of the fourth component of complement (C4) determined by a gene not linked to human histocompatibility leukocyte antigens. |
4. |
Wisnieski JJ et al. (1994) Unique C1 inhibitor dysfunction in a kindred without angioedema. I. A mutant C1 INH that inhibits C1-s but not C1-r. |
5. |
OMIM.ORG article Omim 120790 |