Prolidase Deficiency, A Rare Case Report

Abstract

Prolidase deficiency is a rare genetic disorder inherited in an autosomal recessive manner. The culprit Peptidase
D (PEPD) gene, has been identified through molecular gene testing. Diagnostic methods include assessing reduced prolidase enzyme activity or imidodipeptiduria. This condition is both a metabolic disease and an inborn error of metabolism, characterized by defects in proline-containing protein breakdown, such as collagen. Patients may exhibit dysmorphic facial features, atopy, telangiectasia, skin ulceration, splenomegaly, and recurring infections. Skin ulcer biopsy can rule out vasculitis, and autoimmune activation may lead to an overexpression of the activation marker Human Leucocyte Antigen (HLA DR) on CD4+ and CD8+ T cells, along with high interleukin 18 plasma levels. Multidisciplinary care is essential for proper management.
Keywords: Prolidase deficiency, leg ulcer, autoimmunity, T cell immunity.