ArticlePloS one2013
Autoantibodies to harmonin and villin are diagnostic markers in children with IPEX syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 71 citations in OpenAlex.
- COVID-19 survival associates with the immunoglobulin response to the SARS-CoV-2 spike receptor binding domain.The Journal of clinical investigation · 2020Trial
- Comparative Analysis of the Sensitivity, Specificity, Concordance, and 5-Year Predictive Power of Diabetes-Related Autoantibody Assays.Diabetes · 2025Article
- Clinical significance of very high IgE levels (≥1000 IU/mL): Population-based study of 118,211 adults.The journal of allergy and clinical immunology. Global · 2025Article
- Pathogenesis of autoimmune disease.Nature reviews. Nephrology · 2023Review
- Autoimmune Polyendocrine Syndromes in the Pediatric Age.Children (Basel, Switzerland) · 2023Review
- Too much of a good thing: a review of primary immune regulatory disorders.Frontiers in immunology · 2023Review
- Analysis of a series of Italian APECED patients with autoimmune hepatitis and gastro-enteropathies.Frontiers in immunology · 2023Article
- Autoantibodies in immunodeficiency syndromes: The Janus faces of immune dysregulation.Blood reviews · 2022Review
- Natural history of type 1 diabetes on an immunodysregulatory background with genetic alteration in B-cell activating factor receptor: A case report.Frontiers in immunology · 2022Article
- IPEX Syndrome: Genetics and Treatment Options.Genes · 2021Review
- IL-2 Signaling Axis Defects: How Many Faces?Frontiers in pediatrics · 2021Review
- IPEX Syndrome: Improved Knowledge of Immune Pathogenesis Empowers Diagnosis.Frontiers in pediatrics · 2021Review
- IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom.Case reports in immunology · 2020Article
- Clinical Heterogeneity of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome: A French Multicenter Retrospective Study.Clinical and translational gastroenterology · 2018Article
- A type 1 diabetes genetic risk score can discriminate monogenic autoimmunity with diabetes from early-onset clustering of polygenic autoimmunity with diabetes.Diabetologia · 2018Article
- Autoimmune Polyendocrine Syndromes.The New England journal of medicine · 2018Review
- Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic IBD.Virchows Archiv : an international journal of pathology · 2018Review
- Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked.Frontiers in immunology · 2018Article
- No evidence of pancreatic ductal adenocarcinoma specific autoantibodies to Ezrin in a liquid phase LIPS immunoassay.Cancer biomarkers : section A of Disease markers · 2018Article
- Active Subjects With Autoimmune Type 1 Diabetes Have Better Metabolic Profiles Than Sedentary Controls.Cell transplantation · 2017Article
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Autoantibodies to enterocyte antigens harmonin (75 kDa USH1C protein) and villin (actin-binding 95 kDa protein) are associated with the Immune dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome. In this study we evaluated the diagnostic value of harmonin and villin autoantibodies in IPEX and IPEX-like syndromes. Harmonin and villin autoantibodies were measured by a novel Luminescent-Immuno-Precipitation-System (LIPS) quantitative assay, in patients with IPEX, IPEX-like syndrome, Primary Immunodeficiencies (PID) with enteropathy, all diagnosed by sequencing of the FOXP3 gene, and in type 1 diabetes (T1D), celiac disease and healthy blood donors as control groups. Harmonin and villin autoantibodies were detected in 12 (92%) and 6 (46%) of 13 IPEX patients, and in none of the IPEX-like, PID, T1D, celiac patients, respectively. All IPEX patients, including one case with late and atypical clinical presentation, had either harmonin and/or villin autoantibodies and tested positive for enterocyte antibodies by indirect immunofluorescence. When measured in IPEX patients in remission after immunosuppressive therapy or hematopoietic stem cell transplantation, harmonin and villin autoantibodies became undetectable or persisted at low titers in all cases but one in whom harmonin autoantibodies remained constantly high. In one patient, a peak of harmonin antibodies paralleled a relapse phase of enteropathy. Our study demonstrates that harmonin and villin autoantibodies, measured by LIPS, are sensitive and specific markers of IPEX, differentiate IPEX, including atypical cases, from other early childhood disorders associated with enteropathy, and are useful for screening and clinical monitoring of affected children.
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