Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Partial complement component C4 deficiency

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.

Systematic

Complement component C4 deficiency
Complement component C4A deficiency
Complement component C4B deficiency
Partial complement component C4 deficiency
SERPING1

References:

1.

Zahedi R et. al. (1995) Unique C1 inhibitor dysfunction in a kindred without angioedema. II. Identification of an Ala443-->Val substitution and functional analysis of the recombinant mutant protein.

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2.

Wisnieski JJ et. al. (1987) Metabolism of C4 and linkage analysis in a kindred with hereditary incomplete C4 deficiency.

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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.

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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.

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Update: Sept. 26, 2018