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

European Journal of Pediatrics
Aharon KlarTzipora C Falik-Zaccai

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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Citations

Nov 19, 2013·Best Practice & Research. Clinical Rheumatology·Clara Malattia, Alberto Martini
Dec 18, 2013·International Journal of Rheumatic Diseases·Biji T KurienR Hal Scofield
Feb 29, 2016·Reumatología clinica·Francisco Rivas-Larrauri, Marco Antonio Yamazaki-Nakashimada
Nov 5, 2016·Current Rheumatology Reports·Mindy S Lo
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Feb 29, 2020·Rheumatology·Satoshi SatoEisuke Suganuma
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