Detail
Článek
Článek online
FT
Medvik - BMČ
  • Je něco špatně v tomto záznamu ?

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,...

. 2020 ; 11 (-) : 371. [pub] 20200319

Jazyk angličtina Země Švýcarsko

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc21012788

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).

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc21012788
003      
CZ-PrNML
005      
20210507102250.0
007      
ta
008      
210420s2020 sz f 000 0|eng||
009      
AR
024    7_
$a 10.3389/fimmu.2020.00371 $2 doi
035    __
$a (PubMed)32265901
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a sz
100    1_
$a Kalina, Tomas $u Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
245    10
$a EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children / $c 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, M. Svatoň, A. Šedivá, S. Arriba-Méndez, A. Orfao, JJM. van Dongen, M. van der Burg
520    9_
$a 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).
650    _2
$a předškolní dítě $7 D002675
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a průtoková cytometrie $x metody $7 D005434
650    _2
$a HLA-DR antigeny $x analýza $7 D006684
650    _2
$a lidé $7 D006801
650    _2
$a imunofenotypizace $x metody $7 D016130
650    _2
$a kojenec $7 D007223
650    _2
$a novorozenec $7 D007231
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a primární imunodeficience $x diagnóza $x imunologie $7 D000081207
650    _2
$a těžká kombinovaná imunodeficience $x imunologie $7 D016511
650    _2
$a T-lymfocyty $x imunologie $7 D013601
650    _2
$a thymus $x imunologie $7 D013950
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Bakardjieva, Marina $u Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
700    1_
$a Blom, Maartje $u Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands
700    1_
$a Perez-Andres, Martin $u Department of Medicine-Serv. Cytometry, Cancer Research Center (IBMCC-CSIC/USAL), University of Salamanca, Salamanca, Spain
700    1_
$a Barendregt, Barbara $u Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
700    1_
$a Kanderová, Veronika $u Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
700    1_
$a Bonroy, Carolien $u Department of Diagnostic Sciences, Ghent University, Ghent, Belgium $u Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium
700    1_
$a Philippé, Jan $u Department of Diagnostic Sciences, Ghent University, Ghent, Belgium $u Department of Laboratory Medicine, Ghent University Hospital, Ghent, Belgium
700    1_
$a Blanco, Elena $u Department of Medicine-Serv. Cytometry, Cancer Research Center (IBMCC-CSIC/USAL), University of Salamanca, Salamanca, Spain
700    1_
$a Pico-Knijnenburg, Ingrid $u Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands $u Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
700    1_
$a Paping, Jitse H M P $u Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands
700    1_
$a Wolska-Kuśnierz, Beata $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
700    1_
$a Pac, Malgorzata $u Department of Immunology, Children's Memorial Health Institute, Warsaw, Poland
700    1_
$a Tkazcyk, Jakub $u Department of Pediatrics, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
700    1_
$a Haerynck, Filomeen $u PID Research Lab, Department of Pediatric Pulmonology and Immunology, Ghent University Hospital, Ghent, Belgium
700    1_
$a Akar, Himmet Haluk $u Department of Pediatric Immunology and Allergy, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul Health Sciences University, Istanbul, Turkey
700    1_
$a Formánková, Renata $u Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
700    1_
$a Freiberger, Tomáš $u Centre for Cardiovascular Surgery and Transplantation, Brno, Czechia $u Medical Faculty, Masaryk University, Brno, Czechia
700    1_
$a Svatoň, Michael $u Department of Paediatric Haematology and Oncology, Second Faculty of Medicine, Charles University and University Hospital Motol, Prague, Czechia
700    1_
$a Šedivá, Anna $u Department of Immunology, University Hospital Motol, Prague, Czechia
700    1_
$a Arriba-Méndez, Sonia $u Servicio de Pediatría, Hospital Universitario de Salamanca, Salamanca, Spain
700    1_
$a Orfao, Alberto $u Department of Medicine-Serv. Cytometry, Cancer Research Center (IBMCC-CSIC/USAL), University of Salamanca, Salamanca, Spain
700    1_
$a van Dongen, Jacques J M $u Department of Immunohematology and Blood Transfusion (IHB), Leiden University Medical Center (LUMC), Leiden, Netherlands
700    1_
$a van der Burg, Mirjam $u Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center (LUMC), Leiden, Netherlands $u Department of Immunology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, Netherlands
773    0_
$w MED00181405 $t Frontiers in immunology $x 1664-3224 $g Roč. 11, č. - (2020), s. 371
856    41
$u https://pubmed.ncbi.nlm.nih.gov/32265901 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20210420 $b ABA008
991    __
$a 20210507102249 $b ABA008
999    __
$a ok $b bmc $g 1651033 $s 1133167
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2020 $b 11 $c - $d 371 $e 20200319 $i 1664-3224 $m Frontiers in immunology $n Front Immunol $x MED00181405
LZP    __
$a Pubmed-20210420

Najít záznam

Citační ukazatele

Nahrávání dat ...

Možnosti archivace

Nahrávání dat ...