Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development
ABSTRACT: 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, atres...
- Autores:
-
Franco Restrepo, José Luis
Mustillo, Peter J.
Sullivan, Kathleen E.
Chinn, Ivan K.
Notarangelo, Luigi D.
Haddad, Elie
Davies, E Graham
de la Morena, María Teresa
Hartog, Nicholas
Yu, Joyce E.
Hernández Trujillo, Vivian P.
Ip, Winnie
Gambineri, Eleonora
Hickey, Scott E.
Varga, Elizabeth
Markert, M Louise
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2023
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- eng
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/40728
- Acceso en línea:
- https://hdl.handle.net/10495/40728
- Palabra clave:
- CHARGE Syndrome
Síndrome CHARGE
Chromosome Deletion
Deleción Cromosómica
Chromosomes
Cromosomas
DiGeorge Syndrome
Síndrome de DiGeorge
Heart Defects, Congenital
Cardiopatías Congénitas
https://id.nlm.nih.gov/mesh/D058747
https://id.nlm.nih.gov/mesh/D002872
https://id.nlm.nih.gov/mesh/D002875
https://id.nlm.nih.gov/mesh/D004062
https://id.nlm.nih.gov/mesh/D006330
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by/2.5/co/
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| dc.title.spa.fl_str_mv |
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 |
| spellingShingle |
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development CHARGE Syndrome Síndrome CHARGE Chromosome Deletion Deleción Cromosómica Chromosomes Cromosomas DiGeorge Syndrome Síndrome de DiGeorge Heart Defects, Congenital Cardiopatías Congénitas https://id.nlm.nih.gov/mesh/D058747 https://id.nlm.nih.gov/mesh/D002872 https://id.nlm.nih.gov/mesh/D002875 https://id.nlm.nih.gov/mesh/D004062 https://id.nlm.nih.gov/mesh/D006330 |
| title_short |
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_sort |
Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development |
| dc.creator.fl_str_mv |
Franco Restrepo, José Luis Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E Graham de la Morena, María Teresa Hartog, Nicholas Yu, Joyce E. Hernández Trujillo, Vivian P. Ip, Winnie Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M Louise |
| dc.contributor.author.none.fl_str_mv |
Franco Restrepo, José Luis Mustillo, Peter J. Sullivan, Kathleen E. Chinn, Ivan K. Notarangelo, Luigi D. Haddad, Elie Davies, E Graham de la Morena, María Teresa Hartog, Nicholas Yu, Joyce E. Hernández Trujillo, Vivian P. Ip, Winnie Gambineri, Eleonora Hickey, Scott E. Varga, Elizabeth Markert, M Louise |
| dc.contributor.researchgroup.spa.fl_str_mv |
Inmunodeficiencias Primarias |
| dc.subject.decs.none.fl_str_mv |
CHARGE Syndrome Síndrome CHARGE Chromosome Deletion Deleción Cromosómica Chromosomes Cromosomas DiGeorge Syndrome Síndrome de DiGeorge Heart Defects, Congenital Cardiopatías Congénitas |
| topic |
CHARGE Syndrome Síndrome CHARGE Chromosome Deletion Deleción Cromosómica Chromosomes Cromosomas DiGeorge Syndrome Síndrome de DiGeorge Heart Defects, Congenital Cardiopatías Congénitas https://id.nlm.nih.gov/mesh/D058747 https://id.nlm.nih.gov/mesh/D002872 https://id.nlm.nih.gov/mesh/D002875 https://id.nlm.nih.gov/mesh/D004062 https://id.nlm.nih.gov/mesh/D006330 |
| dc.subject.meshuri.none.fl_str_mv |
https://id.nlm.nih.gov/mesh/D058747 https://id.nlm.nih.gov/mesh/D002872 https://id.nlm.nih.gov/mesh/D002875 https://id.nlm.nih.gov/mesh/D004062 https://id.nlm.nih.gov/mesh/D006330 |
| description |
ABSTRACT: 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. |
| publishDate |
2023 |
| dc.date.issued.none.fl_str_mv |
2023 |
| dc.date.accessioned.none.fl_str_mv |
2024-07-23T01:26:21Z |
| dc.date.available.none.fl_str_mv |
2024-07-23T01:26:21Z |
| dc.type.spa.fl_str_mv |
Artículo de investigación |
| dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
| dc.type.coarversion.spa.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.driver.spa.fl_str_mv |
info:eu-repo/semantics/article |
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info:eu-repo/semantics/publishedVersion |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. Erratum in: J Clin Immunol. 2024 Jan 22;44(2):53. doi: 10.1007/s10875-024-01655-3. PMID: 36648576; PMCID: PMC9892161. |
| dc.identifier.issn.none.fl_str_mv |
0271-9142 |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/10495/40728 |
| dc.identifier.doi.none.fl_str_mv |
10.1007/s10875-022-01418-y |
| dc.identifier.eissn.none.fl_str_mv |
1573-2592 |
| identifier_str_mv |
Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. Erratum in: J Clin Immunol. 2024 Jan 22;44(2):53. doi: 10.1007/s10875-024-01655-3. PMID: 36648576; PMCID: PMC9892161. 0271-9142 10.1007/s10875-022-01418-y 1573-2592 |
| url |
https://hdl.handle.net/10495/40728 |
| dc.language.iso.spa.fl_str_mv |
eng |
| language |
eng |
| dc.relation.ispartofjournalabbrev.spa.fl_str_mv |
J. Clin. Immunol. |
| dc.relation.citationendpage.spa.fl_str_mv |
270 |
| dc.relation.citationissue.spa.fl_str_mv |
2 |
| dc.relation.citationstartpage.spa.fl_str_mv |
247 |
| dc.relation.citationvolume.spa.fl_str_mv |
43 |
| dc.relation.ispartofjournal.spa.fl_str_mv |
Journal of Clinical Immunology |
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http://creativecommons.org/licenses/by/2.5/co/ |
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https://creativecommons.org/licenses/by/4.0/ |
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info:eu-repo/semantics/openAccess |
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openAccess |
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24 páginas |
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application/pdf |
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Springer |
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Ámsterdam, Países Bajos |
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Franco Restrepo, José LuisMustillo, Peter J.Sullivan, Kathleen E.Chinn, Ivan K.Notarangelo, Luigi D.Haddad, ElieDavies, E Grahamde la Morena, María TeresaHartog, NicholasYu, Joyce E.Hernández Trujillo, Vivian P.Ip, WinnieGambineri, EleonoraHickey, Scott E.Varga, ElizabethMarkert, M LouiseInmunodeficiencias Primarias2024-07-23T01:26:21Z2024-07-23T01:26:21Z2023Mustillo PJ, Sullivan KE, Chinn IK, Notarangelo LD, Haddad E, Davies EG, de la Morena MT, Hartog N, Yu JE, Hernandez-Trujillo VP, Ip W, Franco J, Gambineri E, Hickey SE, Varga E, Markert ML. Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development. J Clin Immunol. 2023 Feb;43(2):247-270. doi: 10.1007/s10875-022-01418-y. Epub 2023 Jan 17. Erratum in: J Clin Immunol. 2024 Jan 22;44(2):53. doi: 10.1007/s10875-024-01655-3. PMID: 36648576; PMCID: PMC9892161.0271-9142https://hdl.handle.net/10495/4072810.1007/s10875-022-01418-y1573-2592ABSTRACT: 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.COL001242624 páginasapplication/pdfengSpringerÁmsterdam, Países Bajoshttp://creativecommons.org/licenses/by/2.5/co/https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccesshttp://purl.org/coar/access_right/c_abf2Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic DevelopmentArtículo de investigaciónhttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARThttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionCHARGE SyndromeSíndrome CHARGEChromosome DeletionDeleción CromosómicaChromosomesCromosomasDiGeorge SyndromeSíndrome de DiGeorgeHeart Defects, CongenitalCardiopatías Congénitashttps://id.nlm.nih.gov/mesh/D058747https://id.nlm.nih.gov/mesh/D002872https://id.nlm.nih.gov/mesh/D002875https://id.nlm.nih.gov/mesh/D004062https://id.nlm.nih.gov/mesh/D006330J. 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