EuroFlow Standardized Approach to Diagnostic Immunopheneotyping
of Severe PID in Newborns and Young Children

J 2020

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

KALINA, T., M. BAKARDJIEVA, M. BLOM, M. PEREZ-ANDRES, B. BARENDREGT et. al.

Základní údaje

Originální název

EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children

Autoři

KALINA, T. (203 Česká republika), M. BAKARDJIEVA (203 Česká republika), M. BLOM (528 Nizozemské království), M. PEREZ-ANDRES (724 Španělsko), B. BARENDREGT (528 Nizozemské království), V. KANDEROVA (203 Česká republika), C. BONROY (56 Belgie), J. PHILIPPE (724 Španělsko), E. BLANCO (724 Španělsko), I. PICO-KNIJNENBURG (528 Nizozemské království), J. H. M. P. PAPING (528 Nizozemské království), B. WOLSKA-KUSNIERZ (616 Polsko), M. PAC (616 Polsko), J. TKAZCYK (203 Česká republika), F. HAERYNCK (56 Belgie), H. H. AKAR (792 Turecko), R. FORMANKOVA (203 Česká republika), Tomáš FREIBERGER (203 Česká republika, domácí), M. SVATORI (203 Česká republika), A. SEDIVA (203 Česká republika), S. ARRIBA-MENDEZ (724 Španělsko), A. ORFAO (724 Španělsko), J. J. M. VAN DONGEN (528 Nizozemské království) a M. VAN DER BURG (528 Nizozemské království, garant)

Vydání

Frontiers in Immunology, LAUSANNE, FRONTIERS MEDIA SA, 2020, 1664-3224

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30102 Immunology

Stát vydavatele

Švýcarsko

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Impakt faktor

Impact factor: 7.561

Kód RIV

RIV/00216224:14110/20:00116165

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.3389/fimmu.2020.00371

UT WoS

000525679400001

Klíčová slova anglicky

flow cytometric immunophenotyping; primary immunodeficiencies (PID); EuroFlow; standardization; severe combined immune deficiency (SCID); diagnosis

Štítky

14110114, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 10. 8. 2020 10:59, Mgr. Tereza Miškechová

Anotace

V originále

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+. Naive CD8+ T-lymphocytes and naive 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 naive CD4+ and naive 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).

Citovat

KALINA, T., M. BAKARDJIEVA, M. BLOM, M. PEREZ-ANDRES, B. BARENDREGT, V. KANDEROVA, C. BONROY, J. PHILIPPE, E. BLANCO, I. PICO-KNIJNENBURG, J. H. M. P. PAPING, B. WOLSKA-KUSNIERZ, M. PAC, J. TKAZCYK, F. HAERYNCK, H. H. AKAR, R. FORMANKOVA, Tomáš FREIBERGER, M. SVATORI, A. SEDIVA, S. ARRIBA-MENDEZ, A. ORFAO, J. J. M. VAN DONGEN a M. VAN DER BURG. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children. Frontiers in Immunology. LAUSANNE: FRONTIERS MEDIA SA, 2020, roč. 11, MAR 2020, s. 1-14. ISSN 1664-3224. Dostupné z: https://dx.doi.org/10.3389/fimmu.2020.00371.

@article{1673740,
   author = {Kalina, T. and Bakardjieva, M. and Blom, M. and PerezandAndres, M. and Barendregt, B. and Kanderova, V. and Bonroy, C. and Philippe, J. and Blanco, E. and PicoandKnijnenburg, I. and Paping, J. H. M. P. and WolskaandKusnierz, B. and Pac, M. and Tkazcyk, J. and Haerynck, F. and Akar, H. H. and Formankova, R. and Freiberger, Tomáš and Svatori, M. and Sediva, A. and ArribaandMendez, S. and Orfao, A. and van Dongen, J. J. M. and van der Burg, M.},
   article_location = {LAUSANNE},
   article_number = {MAR 2020},
   doi = {http://dx.doi.org/10.3389/fimmu.2020.00371},
   keywords = {flow cytometric immunophenotyping; primary immunodeficiencies (PID); EuroFlow; standardization; severe combined immune deficiency (SCID); diagnosis},
   language = {eng},
   issn = {1664-3224},
   journal = {Frontiers in Immunology},
   title = {EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children},
   url = {https://www.frontiersin.org/articles/10.3389/fimmu.2020.00371/full},
   volume = {11},
   year = {2020}
}

TY  - JOUR
ID  - 1673740
AU  - Kalina, T. - Bakardjieva, M. - Blom, M. - Perez-Andres, M. - Barendregt, B. - Kanderova, V. - Bonroy, C. - Philippe, J. - Blanco, E. - Pico-Knijnenburg, I. - Paping, J. H. M. P. - Wolska-Kusnierz, B. - Pac, M. - Tkazcyk, J. - Haerynck, F. - Akar, H. H. - Formankova, R. - Freiberger, Tomáš - Svatori, M. - Sediva, A. - Arriba-Mendez, S. - Orfao, A. - van Dongen, J. J. M. - van der Burg, M.
PY  - 2020
TI  - EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children
JF  - Frontiers in Immunology
VL  - 11
IS  - MAR 2020
SP  - 1-14
EP  - 1-14
PB  - FRONTIERS MEDIA SA
SN  - 16643224
KW  - flow cytometric immunophenotyping
KW  - primary immunodeficiencies (PID)
KW  - EuroFlow
KW  - standardization
KW  - severe combined immune deficiency (SCID)
KW  - diagnosis
UR  - https://www.frontiersin.org/articles/10.3389/fimmu.2020.00371/full
L2  - https://www.frontiersin.org/articles/10.3389/fimmu.2020.00371/full
N2  - 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+. Naive CD8+ T-lymphocytes and naive 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 naive CD4+ and naive 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).
ER  -

KALINA, T., M. BAKARDJIEVA, M. BLOM, M. PEREZ-ANDRES, B. BARENDREGT, V. KANDEROVA, C. BONROY, J. PHILIPPE, E. BLANCO, I. PICO-KNIJNENBURG, J. H. M. P. PAPING, B. WOLSKA-KUSNIERZ, M. PAC, J. TKAZCYK, F. HAERYNCK, H. H. AKAR, R. FORMANKOVA, Tomáš FREIBERGER, M. SVATORI, A. SEDIVA, S. ARRIBA-MENDEZ, A. ORFAO, J. J. M. VAN DONGEN a M. VAN DER BURG. EuroFlow Standardized Approach to Diagnostic Immunopheneotyping of Severe PID in Newborns and Young Children. \textit{Frontiers in Immunology}. LAUSANNE: FRONTIERS MEDIA SA, 2020, roč.~11, MAR 2020, s.~1-14. ISSN~1664-3224. Dostupné z: https://dx.doi.org/10.3389/fimmu.2020.00371.

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