Der Properdinmangel ist eine x-chromosomale rezessive Erkrankung, die durch Mutationen des Properdin-(CFP)-Gens hervorgerufen werden. Klinisch Äußert sich ein Mangel in einer Infektanfälligkeit, insbesondere gegenüber Meningokokken. Bei der Pathogenese der C3-Glomerulonephritis scheinen des Properdin-Gens ebenfalls eine besondere Rolle zu spielen.
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Nolan KF et al. (1992) Characterization of the human properdin gene. ![]() |
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Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping. ![]() |
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Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia. ![]() |
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Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome. ![]() |
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Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination. ![]() |
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Goonewardena P et al. (1988) Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome. ![]() |
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Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups. ![]() |
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None (2013) Unexpected role for properdin in complement C3 glomerulopathies. ![]() |
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Lesher AM et al. (2013) Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis. ![]() |
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Gulati S et al. (2012) Properdin is critical for antibody-dependent bactericidal activity against Neisseria gonorrhoeae that recruit C4b-binding protein. ![]() |
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Helminen M et al. (2012) A novel mutation W388X underlying properdin deficiency in a Finnish family. ![]() |
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Schejbel L et al. (2009) Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome. ![]() |
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Gaarkeuken H et al. (2008) Complement activation by tubular cells is mediated by properdin binding. ![]() |
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Stover CM et al. (2008) Properdin plays a protective role in polymicrobial septic peritonitis. ![]() |
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Genel F et al. (2006) Properdin deficiency in a boy with fulminant meningococcal septic shock. ![]() |
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van den Bogaard R et al. (2000) Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies. ![]() |
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Ross SC et al. (1984) Complement deficiency states and infection: epidemiology, pathogenesis and consequences of neisserial and other infections in an immune deficiency. ![]() |
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Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp. ![]() |
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Derry JM et al. (1992) Physical linkage of the A-raf-1, properdin, synapsin I, and TIMP genes on the human and mouse X chromosomes. ![]() |
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Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene. ![]() |
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Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections. ![]() |
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Sjöholm AG et al. (1988) A second variant of properdin deficiency: the detection of properdin at low concentrations in affected males. ![]() |
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Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease. ![]() |
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Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections]. ![]() |
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Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections. ![]() |
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Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. ![]() |
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Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews. ![]() |
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Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. ![]() |
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Mathew S et al. (2006) Complement and properidin deficiencies in meningococcal disease. ![]() |
31. |
OMIM.ORG article Omim 312060![]() |
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Orphanet article Orphanet ID 2966![]() |