Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Meningokokken-Infektanfälligkeit

Die genetische Anfälligkeit für Meningokokken-Infektionen liegt vor allem in Störungen des Komplementsystems begründet, vor allem der terminale membrane attack complex (MAC), der von C8 und C9 gebildet wird, aber auch Teile des Komplementsystems, die die Bildung des MAC steuern, können betroffen sein (C3, C5, C6, C7).

Management

Die erfolgreiche Prophylaxe besteht in einer Meningokokken-Impfung.

Gliederung

Erbliche Infektionsanfälligkeiten
HIV-Resistenz
Masern-Infektanfälligkeit
Meningokokken-Infektanfälligkeit
C3
C5
C7
C8A
C8B
C8G
C9
CD46
CFB
CFD
CFH
CFP
Resistenz gegenüber Trypanosoma brucei
Störungen der mRNA-Editiertfunktion

Referenzen:

1.

Wetsel RA et. al. (1990) Deficiency of the murine fifth complement component (C5). A 2-base pair gene deletion in a 5'-exon.

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2.

Wang X et. al. (1995) Inherited human complement C5 deficiency. Nonsense mutations in exons 1 (Gln1 to Stop) and 36 (Arg1458 to Stop) and compound heterozygosity in three African-American families.

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3.

Coto E et. al. (1991) DNA polymorphisms and linkage relationship of the human complement component C6, C7, and C9 genes.

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4.

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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5.

Lachmann PJ et. al. (1978) Combined genetic deficiency of C6 and C7 in man.

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6.

Fernie BA et. al. (1996) Molecular bases of combined subtotal deficiencies of C6 and C7: their effects in combination with other C6 and C7 deficiencies.

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7.

Nishizaka H et. al. (1996) Genetic bases of human complement C7 deficiency.

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8.

Fernie BA et. al. (1997) Molecular bases of C7 deficiency: three different defects.

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9.

Fernie BA et. al. (1998) Complement C7 deficiency: seven further molecular defects and their associated marker haplotypes.

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10.

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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11.

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

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12.

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

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13.

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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14.

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

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15.

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

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16.

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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17.

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

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18.

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

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19.

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

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20.

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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21.

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

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22.

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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23.

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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24.

Lee TJ et. al. (1978) Familial deficiency of the seventh component of complement associated with recurrent bacteremic infections due to Neisseria.

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25.

Petersen BH et. al. (1979) Neisseria meningitidis and Neisseria gonorrhoeae bacteremia associated with C6, C7, or C8 deficiency.

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26.

Rittner C et. al. (1976) Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.

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27.

Delâge JM et. al. (1977) Hereditary C7 deficiency. Diagnosis and HLA studies in a French-Canadian family.

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28.

Snyderman R et. al. (1979) Deficiency of the fifth component of complement in human subjects. Clinical, genetic and immunologic studies in a large kindred.

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29.

Rosenfeld SI et. al. (1976) Hereditary deficiency of the fifth component of complement in man. II. Biological properties of C5-deficient human serum.

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30.

Boyer JT et. al. (1975) Hereditary deficiency of the seventh component of complement.

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31.

Sanal O et. al. (1992) Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.

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32.

Friduss SR et. al. (1992) Fatal pyoderma gangrenosum in association with C7 deficiency.

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33.

Shield JP et. al. (1992) Lethal congenital erythroderma: a newly recognised genetic disorder.

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34.

Asghar SS et. al. (1991) Hereditary deficiency of C5 in association with discoid lupus erythematosus.

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35.

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

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36.

Nürnberger W et. al. (1989) Familial deficiency of the seventh component of complement associated with recurrent meningococcal infections.

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37.

Schifferli JA et. al. (1985) Meningococcal meningitis in the first case of complement deficiency.

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38.

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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39.

Glover MT et. al. (1988) Syndrome of erythroderma, failure to thrive, and diarrhea in infancy: a manifestation of immunodeficiency.

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40.

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

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41.

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

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42.

Zimran A et. al. (1987) Hereditary complement deficiency in survivors of meningococcal disease: high prevalence of C7/C8 deficiency in Sephardic (Moroccan) Jews.

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43.

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

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44.

Simon C et. al. (1965) [On a fatally progressing disease of 3 brothers under the picture of erythrodermia desquamativa Leiner].

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45.

Jacobs JC et. al. (1972) Fatal familial Leiner's disease: a deficiency of the opsonic activity of serum complement.

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46.

Miller ME et. al. (1970) A familial deficiency of the phagocytosis-enhancing activity of serum related to a dysfunction of the fifth component of complement (C5).

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47.

Adams EM et. al. (1983) Absence of the seventh component of complement in a patient with chronic meningococcemia presenting as vasculitis.

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48.

Davis CA et. al. (1980) Partial properdin deficiency.

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49.

Clough JD et. al. (1980) Familial late complement component (C6, C7) deficiency with chronic meningococcemia.

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50.

Egan LJ et. al. (1994) Hereditary deficiency of the seventh component of complement and recurrent meningococcal infection: investigations of an Irish family using a novel haemolytic screening assay for complement activity and C7 M/N allotyping.

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51.

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

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52.

Fukumori Y et. al. (1998) Terminal complement component deficiencies in Japan.

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53.

None (1986) Genetic predisposition to meningococcal meningitis.

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54.

Fijen CA et. al. (1994) Complement deficiency predisposes for meningitis due to nongroupable meningococci and Neisseria-related bacteria.

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