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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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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Stover CM et al. (2008) Properdin plays a protective role in polymicrobial septic peritonitis. |
15. |
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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. |
23. |
Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease. |
24. |
Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections]. |
25. |
Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections. |
26. |
Ash S et al. (1994) Further mapping of the properdin deficiency gene in a Tunisian Jewish family--evidence for genetic homogeneity. |
27. |
Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews. |
28. |
Westberg J et al. (1995) Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency. |
30. |
Mathew S et al. (2006) Complement and properidin deficiencies in meningococcal disease. |
31. |
OMIM.ORG article Omim 312060 |
32. |
Orphanet article Orphanet ID 2966 |