A Rare Cause of Immune Dysregulation, Prolidase Deficiency: a Case Report and Review of the Literature

Overview

Journal Immunol Res

Specialty Allergy & Immunology

Date 2024 Sep 18

PMID 39294430

Authors

Damla Baysal Bakir

Suna Asilsoy

Nevin Uzuner

Halime Yagmur

Gizem Kabadayi

Ruya Torun

Zehra Kizildag Karabacak

Esra Isik

Suzan Suncak

Affiliations

Soon will be listed here.

Abstract

We report a pediatric patient with prolidase deficiency, caused by a mutation in the PEPD gene, which encodes the enzyme prolidase D, with a lupus-like clinic and marked dysmorphic features along with pulmonary, neurological, skeletal, and immune system involvement. In addition to being the first known case in the literature where Friedrich's ataxia and prolidase deficiency were observed together, we aimed to highlight that this diagnosis should be considered in patients with autoimmunity and additional systemic findings such as treatment-resistant skin lesions, intellectual disability, and pulmonary manifestations. Furthermore, we sought to compare this case with others documented in the literature.

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