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Komplement-Faktor Properdin

Das Properdin-Gen, CFP, kodiert ein Plasmaprotein, welches eine Bedeutung für die Aktivierung des alternativen Weges der Complementaktivierung besitzt. Das Properdin bindet an bindet ans fremden Zelloberflächen und stabilisiert dort die C3-C5-Konvertase die damit weitere Complementkomponenten aktivieren kann. Dieser Prozess führt letztendlich zu einer Auflösung der Zellen. Besonders gegenüber Meningokokokken scheint dieses System wirksam, denn ein Mangel an Properdin führt zu schweren Meningokokken-Erkrankungen.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Complementfactor-Properdin-Mangel
CFP
Meningokokken-Infektanfälligkeit
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP

Referenzen:

1.

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

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2.

Fearon DT et al. (1980) Current concepts in immunology: the alternative pathway of complement--a system for host resistance to microbial infection.

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3.

Goundis D et al. (1989) Localization of the properdin structural locus to Xp11.23-Xp21.1.

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4.

Laval SH et al. (1991) The properdin structural locus (Pfc) lies close to the locus for tissue inhibitor of metallothionine proteases (Timp) on the mouse X chromosome.

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5.

None (2013) Unexpected role for properdin in complement C3 glomerulopathies.

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6.

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

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7.

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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8.

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

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9.

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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10.

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

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11.

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

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12.

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

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13.

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

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14.

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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15.

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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16.

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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17.

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

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18.

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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19.

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

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20.

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

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21.

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

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22.

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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23.

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

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24.

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

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25.

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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26.

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

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27.

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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28.

NCBI article

NCBI 5199 external link
29.

OMIM.ORG article

Omim 300383 external link
30.

Orphanet article

Orphanet ID 119379 external link
Update: 14. August 2020
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