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Review
. 2024 Dec;72(6):1432-1440.
doi: 10.1007/s12026-024-09541-1. Epub 2024 Sep 19.

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Damla Baysal Bakır  1 , Suna Asilsoy  2 , Nevin Uzuner  2 , Halime Yağmur  2 , Gizem Kabadayı  2 , Rüya Torun  3 , Zehra Kızıldağ Karabacak  3 , Esra Işık  4 , Suzan Süncak  5
Affiliations
Review

A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature

Damla Baysal Bakır et al. Immunol Res. 2024 Dec.

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.

Keywords: Dysmorphic; Immune dysregulation; Inflammation; Lupus; Prolidase.

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Conflict of interest statement

Declarations. Ethical approval: Approval for this study was obtained from Dokuz Eylul University Non-Interventional Research Ethics Committee with decision number 2023/41–14. Consent to participate: Informed consent was obtained from all patients and their parents included in this study. Consent for publication: All patients included in the study (or their guardians) signed informed consent for the publication of their data. The relevant document is attached. Conflict of interest: The authors declare no competing interests.

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