title: A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome.
abstract: BACKGROUND
  Prolidase deficiency is a complex disease characterized by various skin manifestations accompanied by mental retardation, facial dysmorphism and susceptibility to pyogenic infections.
  
  
  METHODS
  We assessed a patient presenting a peculiar phenotype combining manifestations of prolidase deficiency with features typical of hyper-IgE syndrome. Mutation analysis was performed using direct PCR amplification and PCR restriction fragment length polymorphism analysis.
  
  
  RESULTS
  We identified a novel homozygous recessive mutation in the PEPD gene, which was found to segregate in the family of the patient with the disease and was not found in a panel of DNA samples representative of all major Druze families living in northern Israel.
  
  
  CONCLUSIONS
  Our results suggest that prolidase deficiency associated with hyper-IgE syndrome, a rare disorder, can be caused by mutations in PEPD.
authors: Laboratory of Molecular Dermatology, Rambam Medical Centre, Haifa, Israel.
authors: T
authors: T
authors: Hershkovitz
authors: G
authors: G
authors: Hassoun
authors: M
authors: M
authors: Indelman
authors: L I
authors: LI
authors: Shlush
authors: R
authors: R
authors: Bergman
authors: S
authors: S
authors: Pollack
authors: E
authors: E
authors: Sprecher