Cargando…
Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment
Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215820/ https://www.ncbi.nlm.nih.gov/pubmed/37238969 http://dx.doi.org/10.3390/biomedicines11051299 |
_version_ | 1785048154081591296 |
---|---|
author | Boz, Valentina Tesser, Alessandra Girardelli, Martina Burlo, Francesca Pin, Alessia Severini, Giovanni Maria De Marchi, Ginevra Verzegnassi, Federico Naviglio, Samuele Tommasini, Alberto Valencic, Erica |
author_facet | Boz, Valentina Tesser, Alessandra Girardelli, Martina Burlo, Francesca Pin, Alessia Severini, Giovanni Maria De Marchi, Ginevra Verzegnassi, Federico Naviglio, Samuele Tommasini, Alberto Valencic, Erica |
author_sort | Boz, Valentina |
collection | PubMed |
description | Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression. We studied immune dysregulation diseases in 30 patients with autoimmune or allergic phenotypes, exploiting data from clinics and immunophenotype, genetic and transcriptome investigations, and 6 of them were diagnosed with a monogenic disorder. Our results confirm that a non-negligible number of children with IEIs may present with signs and symptoms of immune dysregulation and share many features with common multifactorial immune conditions. Reaching a genetic diagnosis becomes more likely in the presence of multiple clinical manifestations, especially when in association with abnormalities of lymphocytes subsets and/or immunoglobulins levels. Moreover, 5 of 6 patients that obtained a diagnosis of monogenic disorder received precision therapy, in four cases with a good or moderate response. |
format | Online Article Text |
id | pubmed-10215820 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-102158202023-05-27 Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment Boz, Valentina Tesser, Alessandra Girardelli, Martina Burlo, Francesca Pin, Alessia Severini, Giovanni Maria De Marchi, Ginevra Verzegnassi, Federico Naviglio, Samuele Tommasini, Alberto Valencic, Erica Biomedicines Article Inborn errors of immunity (IEI) associated with immune dysregulation are not sufficiently addressed in shared recommendation, resulting in delayed diagnosis and high morbidity. The availability of precision medicine for some of these immune defects makes it urgent to evaluate effective strategies to diagnose and treat such defects before the occurrence of severe complications. A diagnosis of an IEI in these patients enabled the use of a more specific treatment in most cases, and these have the potential to prevent further disease progression. We studied immune dysregulation diseases in 30 patients with autoimmune or allergic phenotypes, exploiting data from clinics and immunophenotype, genetic and transcriptome investigations, and 6 of them were diagnosed with a monogenic disorder. Our results confirm that a non-negligible number of children with IEIs may present with signs and symptoms of immune dysregulation and share many features with common multifactorial immune conditions. Reaching a genetic diagnosis becomes more likely in the presence of multiple clinical manifestations, especially when in association with abnormalities of lymphocytes subsets and/or immunoglobulins levels. Moreover, 5 of 6 patients that obtained a diagnosis of monogenic disorder received precision therapy, in four cases with a good or moderate response. MDPI 2023-04-27 /pmc/articles/PMC10215820/ /pubmed/37238969 http://dx.doi.org/10.3390/biomedicines11051299 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Boz, Valentina Tesser, Alessandra Girardelli, Martina Burlo, Francesca Pin, Alessia Severini, Giovanni Maria De Marchi, Ginevra Verzegnassi, Federico Naviglio, Samuele Tommasini, Alberto Valencic, Erica Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title | Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title_full | Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title_fullStr | Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title_full_unstemmed | Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title_short | Inborn Errors of Immunity in Children with Autoimmune and Allergic Complaints: A Single Center Experience from Diagnosis to Treatment |
title_sort | inborn errors of immunity in children with autoimmune and allergic complaints: a single center experience from diagnosis to treatment |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10215820/ https://www.ncbi.nlm.nih.gov/pubmed/37238969 http://dx.doi.org/10.3390/biomedicines11051299 |
work_keys_str_mv | AT bozvalentina inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT tesseralessandra inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT girardellimartina inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT burlofrancesca inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT pinalessia inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT severinigiovannimaria inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT demarchiginevra inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT verzegnassifederico inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT navigliosamuele inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT tommasinialberto inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment AT valencicerica inbornerrorsofimmunityinchildrenwithautoimmuneandallergiccomplaintsasinglecenterexperiencefromdiagnosistotreatment |