Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Complementfactor-Properdin-Mangel

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.

Gliederung

Erbliche Complementstörungen
CR1-Mangel
Complementfactor-Properdin-Mangel
CFP
Complementfaktor I-Mangel
Complementfaktor-D-Mangel
Frühe Komplementdefekte
Hereditäres Angioödem
Komplement C3-Mangel
Komplement C4-Mangel
Terminale Komplementdefekte
Thrombotische Mikroangiopathien

Referenzen:

1.

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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2.

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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3.

Nolan KF et al. (1992) Characterization of the human properdin gene.

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4.

Wadelius C et al. (1992) Linkage analysis in properdin deficiency families: refined location in proximal Xp.

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5.

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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6.

Mathew S et al. (2006) Complement and properidin deficiencies in meningococcal disease.

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7.

Genel F et al. (2006) Properdin deficiency in a boy with fulminant meningococcal septic shock.

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8.

Coleman MP et al. (1991) Genetic and physical mapping around the properdin P gene.

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9.

Stover CM et al. (2008) Properdin plays a protective role in polymicrobial septic peritonitis.

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10.

Gaarkeuken H et al. (2008) Complement activation by tubular cells is mediated by properdin binding.

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11.

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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12.

Helminen M et al. (2012) A novel mutation W388X underlying properdin deficiency in a Finnish family.

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13.

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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14.

Lesher AM et al. (2013) Combination of factor H mutation and properdin deficiency causes severe C3 glomerulonephritis.

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15.

Daha MR et al. (2013) Unexpected role for properdin in complement C3 glomerulopathies.

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16.

Schlesinger M et al. (1990) Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

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17.

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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18.

Sjöholm AG et al. (1988) Dysfunctional properdin in a Dutch family with meningococcal disease.

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19.

Tersmette-Steenstra HM et al. (1986) [A family with meningococcal infections].

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20.

Sjöholm AG et al. (1982) Properdin deficiency in a family with fulminant meningococcal infections.

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21.

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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22.

Schlesinger M et al. (1993) Hereditary properdin deficiency in three families of Tunisian Jews.

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23.

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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24.

Fredrikson GN et al. (1996) Molecular characterization of properdin deficiency type III: dysfunction produced by a single point mutation in exon 9 of the structural gene causing a tyrosine to aspartic acid interchange.

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25.

Fijen CA et al. (1989) Complement deficiencies in patients over ten years old with meningococcal disease due to uncommon serogroups.

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26.

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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27.

Densen P et al. (1987) Familial properdin deficiency and fatal meningococcemia. Correction of the bactericidal defect by vaccination.

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28.

Mensink EJ et al. (1987) Immunodeficiency disease genes on the X chromosome.

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29.

Gelfand EW et al. (1987) Inherited deficiency of properdin and C2 in a patient with recurrent bacteremia.

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30.

Kölble K et al. (1993) Carrier detection in families with properdin deficiency by microsatellite haplotyping.

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