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Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Springer US
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892161/ https://www.ncbi.nlm.nih.gov/pubmed/36648576 http://dx.doi.org/10.1007/s10875-022-01418-y |
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author | Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E. Graham de la Morena, Maria Teresa Hartog, Nicholas Yu, Joyce E. Hernandez-Trujillo, Vivian P. Ip, Winnie Franco, Jose Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M. Louise |
author_facet | Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E. Graham de la Morena, Maria Teresa Hartog, Nicholas Yu, Joyce E. Hernandez-Trujillo, Vivian P. Ip, Winnie Franco, Jose Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M. Louise |
author_sort | Mustillo, Peter J. |
collection | PubMed |
description | Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune compromise. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders. |
format | Online Article Text |
id | pubmed-9892161 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Springer US |
record_format | MEDLINE/PubMed |
spelling | pubmed-98921612023-02-03 Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E. Graham de la Morena, Maria Teresa Hartog, Nicholas Yu, Joyce E. Hernandez-Trujillo, Vivian P. Ip, Winnie Franco, Jose Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M. Louise J Clin Immunol How I Manage Current practices vary widely regarding the immunological work-up and management of patients affected with defects in thymic development (DTD), which include chromosome 22q11.2 microdeletion syndrome (22q11.2del) and other causes of DiGeorge syndrome (DGS) and coloboma, heart defect, atresia choanae, retardation of growth and development, genital hypoplasia, ear anomalies/deafness (CHARGE) syndrome. Practice variations affect the initial and subsequent assessment of immune function, the terminology used to describe the condition and immune status, the accepted criteria for recommending live vaccines, and how often follow-up is needed based on the degree of immune compromise. The lack of consensus and widely varying practices highlight the need to establish updated immunological clinical practice guidelines. These guideline recommendations provide a comprehensive review for immunologists and other clinicians who manage immune aspects of this group of disorders. Springer US 2023-01-17 2023 /pmc/articles/PMC9892161/ /pubmed/36648576 http://dx.doi.org/10.1007/s10875-022-01418-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | How I Manage Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E. Graham de la Morena, Maria Teresa Hartog, Nicholas Yu, Joyce E. Hernandez-Trujillo, Vivian P. Ip, Winnie Franco, Jose Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M. Louise Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title_full | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title_fullStr | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title_full_unstemmed | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title_short | Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
title_sort | clinical practice guidelines for the immunological management of chromosome 22q11.2 deletion syndrome and other defects in thymic development |
topic | How I Manage |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9892161/ https://www.ncbi.nlm.nih.gov/pubmed/36648576 http://dx.doi.org/10.1007/s10875-022-01418-y |
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