A homozygous missense mutation in PEPD encoding peptidase D causes prolidase deficiency associated with hyper-IgE syndrome

Authors: Hershkovitz, T.; Hassoun, G.¹; Indelman, M.; Shlush, L. I.; Bergman, R.; Pollack, S.; Sprecher, E.

Source: Clinical & Experimental Dermatology, Volume 31, Number 3, May 2006 , pp. 435-440(6)

Publisher: Blackwell Publishing

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Abstract:

Summary 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. Discussion.

Our results suggest that prolidase deficiency associated with hyper-IgE syndrome, a rare disorder, can be caused by mutations in PEPD.

Document Type: Research article

DOI: 10.1111/j.1365-2230.2006.02112.x

Affiliations: 1: Institute of Allergy, Clinical Immunology, and AIDS

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