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Prolidase deficiency: it looks like systemic lupus erythematosus but it is not

Abstract

Three siblings with recalcitrant leg ulceration, splenomegaly, photosensitive rash, and autoantibodies were suspected of having prolidase deficiency. Urine was checked for iminodipeptiduria, fibroblasts were cultured and analyzed for prolidase activity, and DNA was extracted for identifying the causative mutation. Glycyl proline was found as the dominant dipeptide in the urine. The activity of proline dipeptidase in fibroblasts was 2.5% of control fibroblasts. Sequence analysis of the PEPD gene revealed a homozygous nonsense C→G transition at nucleotide 768. In conclusion, prolidase deficiency was diagnosed in siblings with skin ulceration autoantibodies and a lupus-like disease. A novel nonsense mutation was found, associated with the severe outcome of our patients.

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Acknowledgments

We would like to thank N. Alon and L. Golan for their editorial assistance.

Conflict of Interest

The authors declare that they have no conflict of interest, financial or otherwise, in connection with the paper.

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Correspondence to Aharon Klar.

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Klar, A., Navon-Elkan, P., Rubinow, A. et al. Prolidase deficiency: it looks like systemic lupus erythematosus but it is not. Eur J Pediatr 169, 727–732 (2010). https://doi.org/10.1007/s00431-009-1102-1

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  • DOI: https://doi.org/10.1007/s00431-009-1102-1

Keywords

  • Systemic lupus erythematosus (SLE)
  • Prolidase deficiency
  • Mutation