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Disease: Properdin deficiency- X-linked

  • Carrier detection in families with properdin deficiency by microsatellite haplotyping
  • Fluorescent detection of microsatellite polymorphisms: properdin deficiency linked to PFC microsatellite
  • Linkage analysis in properdin deficiency families: refined location in proximal Xp
  • Linkage analysis of the properdin deficiency gene: suggestion of a locus in the proximal part of the short arm of the X chromosome
  • Localization of the properdin structural locus to Xp11.23-Xp21.1
  • 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
  • Neisseria meningitidis inside neutrophils, revealing properdin deficiency
  • Partial properdin deficiency revealed by a septicemia caused by Neisseria meningitidis
  • Properdin deficiency associated with recurrent otitis media and pneumonia, and identification of male carrier with Klinefelter syndrome
  • Properdin deficiency-associated bronchiectasis
  • Properdin in childhood and its association with wheezing and atopy
  • Pulmonary complications of primary immunodeficiencies
  • Recurrent meningococcal septicaemia and properdin deficiency
  • Sequence-based analysis of properdin deficiency: identification of point mutations in two phenotypic forms of an X-linked immunodeficiency
  • The molecular basis of X-linked immunodeficiency disease
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