Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Properdin deficiency, X-linked

Properdin deficiency is an x-linked recessive disorder caused by mutations of the properdin (CFP) gene. Klinical manifestations are severe infections. Especially meningococcal infections are fulminant. Also mutations of the properdin gene play a role in pathogenesis of the C3 glomerulonephritis.

Diagnosis

Properdin deficiency

Systematic

Hereditary complement disorders
CR1 deficiency
Complement C2 deficiency
Complement C3 deficiency
Complement C5 deficiency
Complement C6 deficiency
Complement C7 deficiency
Complement C8 deficiency
Complement C9 deficiency
Complement component C4 deficiency
Complement factor D deficiency
Complement factor I deficiency
Early pathway complement deficiencies
Hereditary Angioedema
Properdin deficiency, X-linked
CFP
Terminal pathway complement deficiencies
Thrombotic microangiopathies

References:

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.

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

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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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

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9.

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

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10.

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

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11.

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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12.

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

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13.

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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14.

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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15.

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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16.

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

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17.

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

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18.

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

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19.

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

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20.

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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21.

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

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22.

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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23.

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

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24.

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

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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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31.

OMIM.ORG article

Omim 312060 [^]
32.

Orphanet article

Orphanet ID 2966 [^]
Update: May 10, 2019