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EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
T. Kalina, M. Bakardjieva, M. Blom, M. Perez-Andres, B. Barendregt, V. Kanderová, C. Bonroy, J. Philippé, E. Blanco, I. Pico-Knijnenburg, JHMP. Paping, B. Wolska-Kuśnierz, M. Pac, J. Tkazcyk, F. Haerynck, HH. Akar, R. Formánková, T. Freiberger,...
Jazyk angličtina Země Švýcarsko
Typ dokumentu časopisecké články, práce podpořená grantem
NLK
Directory of Open Access Journals
od 2010
Free Medical Journals
od 2010
PubMed Central
od 2010
Europe PubMed Central
od 2010
Open Access Digital Library
od 2010-01-01
Open Access Digital Library
od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources
od 2010
PubMed
32265901
DOI
10.3389/fimmu.2020.00371
Knihovny.cz E-zdroje
- MeSH
- HLA-DR antigeny analýza MeSH
- imunofenotypizace metody MeSH
- kojenec MeSH
- lidé MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- primární imunodeficience diagnóza imunologie MeSH
- průtoková cytometrie metody MeSH
- T-lymfocyty imunologie MeSH
- těžká kombinovaná imunodeficience imunologie MeSH
- thymus imunologie MeSH
- Check Tag
- kojenec MeSH
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
The EuroFlow PID consortium developed a set of flow cytometry tests for evaluation of patients with suspicion of primary immunodeficiency (PID). In this technical report we evaluate the performance of the SCID-RTE tube that explores the presence of recent thymic emigrants (RTE) together with T-cell activation status and maturation stages and discuss its applicability in the context of the broader EuroFlow PID flow cytometry testing algorithm for diagnostic orientation of PID of the lymphoid system. We have analyzed peripheral blood cells of 26 patients diagnosed between birth and 2 years of age with a genetically defined primary immunodeficiency disorder: 15 severe combined immunodeficiency (SCID) patients had disease-causing mutations in RAG1 or RAG2 (n = 4, two of them presented with Omenn syndrome), IL2RG (n = 4, one of them with confirmed maternal engraftment), NHEJ1 (n = 1), CD3E (n = 1), ADA (n = 1), JAK3 (n = 3, two of them with maternal engraftment) and DCLRE1C (n = 1) and 11 other PID patients had diverse molecular defects [ZAP70 (n = 1), WAS (n = 2), PNP (n = 1), FOXP3 (n = 1), del22q11.2 (DiGeorge n = 4), CDC42 (n = 1) and FAS (n = 1)]. In addition, 44 healthy controls in the same age group were analyzed using the SCID-RTE tube in four EuroFlow laboratories using a standardized 8-color approach. RTE were defined as CD62L+CD45RO-HLA-DR-CD31+ and the activation status was assessed by the expression of HLA-DR+. Naïve CD8+ T-lymphocytes and naïve CD4+ T-lymphocytes were defined as CD62L+CD45RO-HLA-DR-. With the SCID-RTE tube, we identified patients with PID by low levels or absence of RTE in comparison to controls as well as low levels of naïve CD4+ and naïve CD8+ lymphocytes. These parameters yielded 100% sensitivity for SCID. All SCID patients had absence of RTE, including the patients with confirmed maternal engraftment or oligoclonally expanded T-cells characteristic for Omenn syndrome. Another dominant finding was the increased numbers of activated CD4+HLA-DR+ and CD8+HLA-DR+ lymphocytes. Therefore, the EuroFlow SCID-RTE tube together with the previously published PIDOT tube form a sensitive and complete cytometric diagnostic test suitable for patients suspected of severe PID (SCID or CID) as well as for children identified via newborn screening programs for SCID with low or absent T-cell receptor excision circles (TRECs).
Centre for Cardiovascular Surgery and Transplantation Brno Czechia
Department of Diagnostic Sciences Ghent University Ghent Belgium
Department of Immunohematology and Blood Transfusion Leiden Netherlands
Department of Immunology Children's Memorial Health Institute Warsaw Poland
Department of Immunology Erasmus MC University Medical Center Rotterdam Rotterdam Netherlands
Department of Immunology University Hospital Motol Prague Czechia
Department of Laboratory Medicine Ghent University Hospital Ghent Belgium
Department of Medicine Serv Cytometry Cancer Research Center University of Salamanca Salamanca Spain
Medical Faculty Masaryk University Brno Czechia
Servicio de Pediatría Hospital Universitario de Salamanca Salamanca Spain
Citace poskytuje Crossref.org
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