Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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
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Complement component C4A deficiency
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Complement component C4B deficiency
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Partial complement component C4 deficiency
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SERPING1
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| 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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| 5. |
OMIM.ORG article Omim 120790
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