Evidence map›Paper›PMID 39294430›Full record

ReviewImmunologic research2024

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

Damla Baysal Bakır, Suna Asilsoy, Nevin Uzuner, Halime Yağmur, Gizem Kabadayı, Rüya Torun, Zehra Kızıldağ Karabacak, Esra Işık, Suzan Süncak

Abstract readReview
PubMed Publisher
In one paragraph

Review in Immunologic research, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Damla Baysal BakırDivision of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey. damla.baysalbakir@deu.edu.tr.ORCID 0000-0003-2317-3281
Suna AsilsoyDivision of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey.
Nevin UzunerDivision of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey.
Halime YağmurDivision of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey.
Gizem KabadayıDivision of Pediatric Allergy and Immunology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Mithatpaşa Street, Number: 1606, Inciraltı, BalçovaIzmir, Turkey.
Rüya TorunDivision of Pediatric Rheumatology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Izmir, Turkey.
Zehra Kızıldağ KarabacakDivision of Pediatric Rheumatology, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Izmir, Turkey.
Esra IşıkDivision of Pediatric Genetics, Department of Child Health and Diseases, Faculty of Medicine Hospital, Ege University, Izmir, Turkey.
Suzan SüncakDivision of Pediatric Genetics, Department of Child Health and Diseases, Faculty of Medicine Hospital, Dokuz Eylul University, Izmir, Turkey.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

DipeptidasesProlidase DeficiencyChildHumansMutationDipeptidasesPEPD protein, humanDysmorphicImmune dysregulationInflammationLupusProlidase

Identifiers

PMID39294430

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.