ArticleAllergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology2022
Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.
Article in Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- Interleukin-18: A Critical Culprit in Inflammatory Renal Disease.Kidney international reports · 2026Article
- Response to the Letter to the Editor Entitled "Interleukin-18: A Critical Culprit in Inflammatory Renal Disease".Kidney international reports · 2026Article
- Clinical and biochemical characterization of a patient with prolidase deficiency, a rare disorder of collagen metabolism.Molecular genetics and metabolism reports · 2025Article
- New insights into the noncanonical inflammasome point to caspase-4 as a druggable target.Nature reviews. Immunology · 2025Review
- Beyond Dermatological Findings: Multisystem Involvement in Prolidase Deficiency.Turkish archives of pediatrics · 2025Article
- Prolidase Deficiency Presenting With Pulmonary Arteriovenous Malformations and Seizures: Report of Two Cases From Iran.Case reports in pediatrics · 2025Article
- A rare cause of immune dysregulation, prolidase deficiency: a case report and review of the literature.Immunologic research · 2024Review
- Multiorgan Failure and Sepsis in an ICU Patient with Prolidase Enzyme Deficiency-The Specificity of Treatment and Care: A Case Report.Medicina (Kaunas, Lithuania) · 2024Observational
- Biological and clinical roles of IL-18 in inflammatory diseases.Nature reviews. Rheumatology · 2024Review
- Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation inRMD open · 2023Article
- Cluster Case of Prolidase Deficiency: Varied Clinical Presentations and Management in a Sibling Trio.Cureus · 2023Article
- [Holocarboxylase synthetase deficiency induced byZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- Identification of Sex-Specific Genetic Polymorphisms Associated with Asthma in Middle-Aged and Older Canadian Adults: An Analysis of CLSA Data.Journal of asthma and allergy · 2023Article
- Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2022Review
- Genetic/Environmental Contributions and Immune Dysregulation in Children with Atopic Dermatitis.Journal of asthma and allergy · 2022Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundProlidase deficiency (PD) is an autosomal recessive inborn multisystemic disease caused by mutations in the PEPD gene encoding the enzyme prolidase D, leading to defects in turnover of proline-containing proteins, such as collagen. PD is categorized as a metabolic disease, but also as an inborn error of immunity. PD presents with a range of findings including dysmorphic features, intellectual disabilities, recurrent infections, intractable skin ulceration, autoimmunity, and splenomegaly. Despite symptoms of immune dysregulation, only very limited immunologic assessments have been reported and standard therapies for PD have not been described. We report twin females with PD, including comprehensive immunologic profiles and treatment modalities used. CASE PRESENTATION: Patient 1 had recurrent infections in childhood. At age 13, she presented with telangiectasia, followed by painful, refractory skin ulcerations on her lower limbs, where skin biopsy excluded vasculitis. She had typical dysmorphic features of PD. Next-generation sequencing revealed pathogenic compound heterozygous mutations (premature stop codons) in the PEPD gene. Patient 2 had the same mutations, typical PD facial features, atopy, and telangiectasias, but no skin ulceration. Both patients had imidodipeptiduria. Lymphocyte subset analysis revealed low-normal frequency of T
conclusionsImmunologic abnormalities including skewed frequencies of activated inflammatory CD4
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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.