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Items: 1 to 20 of 96

1.

A novel mutation W388X underlying properdin deficiency in a Finnish family.

Helminen M, Seitsonen S, Jarva H, Meri S, Järvelä IE.

Scand J Immunol. 2012 Apr;75(4):445-8. doi: 10.1111/j.1365-3083.2012.02674.x.

2.

[Properdin mutations a risk factor for meningitis].

Seitsonen S, Helminen M, Jarva H, Meri S, Järvelä I.

Duodecim. 2010;126(9):1071-5. Finnish.

PMID:
20593630
3.

Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency.

Westberg J, Fredrikson GN, Truedsson L, Sjöholm AG, Uhlén M.

Genomics. 1995 Sep 1;29(1):1-8.

PMID:
8530058
4.

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.

Fredrikson GN, Westberg J, Kuijper EJ, Tijssen CC, Sjöholm AG, Uhlén M, Truedsson L.

J Immunol. 1996 Oct 15;157(8):3666-71.

PMID:
8871668
5.

Properdin deficiency in a large Swiss family: identification of a stop codon in the properdin gene, and association of meningococcal disease with lack of the IgG2 allotype marker G2m(n).

Späth PJ, Sjöholm AG, Fredrikson GN, Misiano G, Scherz R, Schaad UB, Uhring-Lambert B, Hauptmann G, Westberg J, Uhlén M, Wadelius C, Truedsson L.

Clin Exp Immunol. 1999 Nov;118(2):278-84.

6.

Association between combined properdin and mannose-binding lectin deficiency and infection with Neisseria meningitidis.

Bathum L, Hansen H, Teisner B, Koch C, Garred P, Rasmussen K, Wang P.

Mol Immunol. 2006 Feb;43(5):473-9. Epub 2005 Mar 21.

PMID:
16337490
7.

Recurrent meningococcal septicaemia and properdin deficiency.

Cunliffe NA, Snowden N, Dunbar EM, Haeney MR.

J Infect. 1995 Jul;31(1):67-8.

PMID:
8522838
8.

Fulminant meningococcal infections in a family with inherited deficiency of properdin.

Braconier JH, Sjöholm AG, Söderström C.

Scand J Infect Dis. 1983;15(4):339-45.

PMID:
6658381
9.

Molecular characterisation of 10 Dutch properdin type I deficient families: mutation analysis and X-inactivation studies.

van den Bogaard R, Fijen CA, Schipper MG, de Galan L, Kuijper EJ, Mannens MM.

Eur J Hum Genet. 2000 Jul;8(7):513-8.

10.

Fulminant meningococcal septic shock in a boy with combined inherited properdin and protein C deficiency.

Fijen CA, Derkx BH, Kuijper EJ, Mannens M, Poort SR, Peters M, Daha MR, Dankert J.

Clin Exp Immunol. 1995 Nov;102(2):290-6.

11.

[Partial properdin deficiency revealed by a septicemia caused by Neisseria meningitidis].

Frémeaux-Bacchi V, Le Coustumier A, Blouin J, Kazatchkine MD, Weiss L.

Presse Med. 1995 Sep 30;24(28):1305-7. Review. French.

PMID:
7501623
12.

Human properdin deficiency has a heterogeneous genetic background.

Truedsson L, Westberg J, Fredrikson GN, Sjöholm AG, Kuijper EJ, Fijen CA, Späth PJ, Uhlén M.

Immunopharmacology. 1997 Dec;38(1-2):203-6. Review. No abstract available.

PMID:
9476131
13.

Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome.

Schejbel L, Rosenfeldt V, Marquart H, Valerius NH, Garred P.

Clin Immunol. 2009 Jun;131(3):456-62. doi: 10.1016/j.clim.2009.02.008. Epub 2009 Mar 27.

PMID:
19328743
14.

Hereditary properdin deficiency in three families of Tunisian Jews.

Schlesinger M, Mashal U, Levy J, Fishelson Z.

Acta Paediatr. 1993 Sep;82(9):744-7.

PMID:
8241670
15.

Properdin deficiency in a family with fulminant meningococcal infections.

Sjöholm AG, Braconier JH, Söderström C.

Clin Exp Immunol. 1982 Nov;50(2):291-7.

16.

Properdin deficiency: rare presentation with meningococcal bone and joint infections.

Rottem M, Miron D, Shiloah E, Horovitz Y, Schlezinger M.

Pediatr Infect Dis J. 1998 Apr;17(4):356-8. No abstract available.

PMID:
9576400
17.

Linkage analysis in properdin deficiency families: refined location in proximal Xp.

Wadelius C, Pigg M, Sundvall M, Sjöholm AG, Goonewardena P, Kuijper EJ, Tijssen CC, Jansz A, Späth PJ, Schaad UB, et al.

Clin Genet. 1992 Jul;42(1):8-12.

PMID:
1516231
18.

Prevalence of hereditary properdin, C7 and C8 deficiencies in patients with meningococcal infections.

Schlesinger M, Nave Z, Levy Y, Slater PE, Fishelson Z.

Clin Exp Immunol. 1990 Sep;81(3):423-7.

19.

Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome.

Goonewardena P, Sjöholm AG, Nilsson LA, Pettersson U.

Genomics. 1988 Feb;2(2):115-8.

PMID:
2900806
20.

Congenital properdin deficiency and meningococcal infection.

Nielsen HE, Koch C.

Clin Immunol Immunopathol. 1987 Aug;44(2):134-9.

PMID:
3608246
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