ArticleInternational journal of rheumatic diseases2013
Prolidase deficiency breaks tolerance to lupus-associated antigens.
Article in International journal of rheumatic diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Pooled it
- 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
- Rituximab to treat prolidase deficiency due to a novel pathogenic copy number variation inRMD open · 2023Article
- Systemic lupus erythematosus as a genetic disease.Clinical immunology (Orlando, Fla.) · 2022Article
- Prolidase deficiency, a rare inborn error of immunity, clinical phenotypes, immunological features, and proposed treatments in twins.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2022Article
- Polygenic autoimmune disease risk alleles impacting B cell tolerance act in concert across shared molecular networks in mouse and in humans.Frontiers in immunology · 2022Review
- Macrophage Activation Syndrome in a Patient with Prolidase Deficiency: a Rare Genetic Disorder Associated with Elevated IgE and Lupus-Like Syndrome.Journal of clinical immunology · 2021Article
- PROLIDASE: A Review from Discovery to its Role in Health and Disease.Frontiers in molecular biosciences · 2021Review
- Review
- Ulceration in Prolidase Deficiency: Successful Treatment with Anticoagulants.Acta dermato-venereologica · 2020Article
- A rare case of prolidase deficiency with situs inversus totalis, identified by a novel mutation in theJAAD case reports · 2019Article
- Prolidase deficiency diagnosed by whole exome sequencing in a child with pulmonary capillaritis.ERJ open research · 2019Article
- The Role of Nucleic Acid Sensing in Controlling Microbial and Autoimmune Disorders.International review of cell and molecular biology · 2019Review
- Unique glandular ex-vivo Th1 and Th17 receptor motifs in Sjögren's syndrome patients using single-cell analysis.Clinical immunology (Orlando, Fla.) · 2018Article
- Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion.Molecular syndromology · 2016Article
- Flavivirus Antagonism of Type I Interferon Signaling Reveals Prolidase as a Regulator of IFNAR1 Surface Expression.Cell host & microbe · 2015Article
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Authors and funding
10 authors.
Funding
Abstract
aimProlidase deficiency is a rare autosomal recessive disease in which one of the last steps of collagen metabolism, cleavage of proline-containing dipeptides, is impaired. Only about 93 patients have been reported with about 10% also having systemic lupus erythematosus (SLE).
methodsWe studied a large extended Amish pedigree with four prolidase deficiency patients and three heterozygous individuals for lupus-associated autoimmunity. Eight unaffected Amish children served as normal controls. Prolidase genetics and enzyme activity were confirmed. Antinuclear antibodies (ANA) were determined using indirect immunofluorescence and antibodies against extractable nuclear antigens were determined by various methods, including double immunodiffusion, immunoprecipitation and multiplex bead assay. Serum C1q levels were determined by enzyme-linked immunosorbent assay.
resultsTwo of the four homozygous prolidase deficiency subjects had a positive ANA. One had anti-double-stranded DNA, while another had precipitating anti-Ro. By the simultaneous microbead assay, three of the four had anti-Sm and anti-chromatin. One of the three heterozygous subjects had a positive ANA and immunoprecipitation of a 75 000 molecular weight protein. The unaffected controls had normal prolidase activity and were negative for autoantibodies.
conclusionsProlidase deficiency may be associated with the loss of immune tolerance to lupus-associated autoantigens even without clinical SLE.
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