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Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome
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 autoantibodi...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Public Library of Science
2013
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826762/ https://www.ncbi.nlm.nih.gov/pubmed/24250806 http://dx.doi.org/10.1371/journal.pone.0078664 |
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author | Lampasona, Vito Passerini, Laura Barzaghi, Federica Lombardoni, Carlo Bazzigaluppi, Elena Brigatti, Cristina Bacchetta, Rosa Bosi, Emanuele |
author_facet | Lampasona, Vito Passerini, Laura Barzaghi, Federica Lombardoni, Carlo Bazzigaluppi, Elena Brigatti, Cristina Bacchetta, Rosa Bosi, Emanuele |
author_sort | Lampasona, Vito |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-3826762 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2013 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
spelling | pubmed-38267622013-11-18 Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome Lampasona, Vito Passerini, Laura Barzaghi, Federica Lombardoni, Carlo Bazzigaluppi, Elena Brigatti, Cristina Bacchetta, Rosa Bosi, Emanuele PLoS One Research Article 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. Public Library of Science 2013-11-08 /pmc/articles/PMC3826762/ /pubmed/24250806 http://dx.doi.org/10.1371/journal.pone.0078664 Text en © 2013 Lampasona et al http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are properly credited. |
spellingShingle | Research Article Lampasona, Vito Passerini, Laura Barzaghi, Federica Lombardoni, Carlo Bazzigaluppi, Elena Brigatti, Cristina Bacchetta, Rosa Bosi, Emanuele Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title | Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title_full | Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title_fullStr | Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title_full_unstemmed | Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title_short | Autoantibodies to Harmonin and Villin Are Diagnostic Markers in Children with IPEX Syndrome |
title_sort | autoantibodies to harmonin and villin are diagnostic markers in children with ipex syndrome |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3826762/ https://www.ncbi.nlm.nih.gov/pubmed/24250806 http://dx.doi.org/10.1371/journal.pone.0078664 |
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