Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency
- Autores
- Kahn, Adrian Mario; Luque, Gabriela; Cuestas, Eduardo; Basquiera, Ana Lisa; Ricchi, Brenda; Schmitz Abe, Klaus; Charbonnier, Louis Marie; Benamar, Mehdi; Motrich, Ruben Dario; Chatila, Talal A.; Rivero, Virginia Elena
- Año de publicación
- 2024
- Idioma
- inglés
- Tipo de recurso
- artículo
- Estado
- versión publicada
- Descripción
- Background: Common Variable Immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity (IEI). Although several aspects of CVID immunopathology have been elucidated, predictive factors for mortality are incompletely defined. A genetic cause can only be identified in approximately 30% of patients. Objectives: To develop a mortality predictive score based on the immunophenotypes and genotypes of CVID patients. Methods: Twenty-one patients diagnosed with CVID in Cordoba, Argentina, were analyzed for clinical and laboratory data. Immunophenotyping was done by flow cytometry. CVID-associated mutations were identified by whole exome sequencing (WES). Results: Live (15) and deceased (6) patients were compared. Univariate analysis showed significant differences in CD4+ T cells (p=0.002), Natural Killer (NK) cells (p=0.001) and memory switched B cells (p=0.001) between groups. Logistic regression analysis showed a negative correlation between CD4, NK and memory switched B cells counts and probability of survival over a 10-year period [CD4+ T cells: OR 1.01 (95% CI: 1.001- 1,020); NK cells: OR 1.07 (95% CI:1.02-1.17) and memory switched B cells: OR 26.23 (95% CI: 2.06-2651.96). ROC curve analysis identified a survival cut off point for each parameter: CD4+ T cells 546 cell/ml AUC 0.87 (sensitivity 60%-specificity 100%), memory switched B cells 0.84 cells/ml AUC 0.92 (sensitivity 100%-specificity 85%), NK cells 45 cells/ml for AUC 0.92 (sensitivity 83%-specificity 100%), %). Genetic analysis on 14 patients from the cohort (9 females, 5 males) revealed mutations associated with IEI in 6 patients. Conclusions: A score to predict mortality is proposed based on CD4, NK and memory switched B cell number in patients with CVID.
Fil: Kahn, Adrian Mario. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina
Fil: Luque, Gabriela. Hospital Privado Universitario de Cordoba.; Argentina
Fil: Cuestas, Eduardo. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina
Fil: Basquiera, Ana Lisa. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina
Fil: Ricchi, Brenda. Hospital Privado Universitario de Cordoba.; Argentina
Fil: Schmitz Abe, Klaus. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos. Jackson Health System; Estados Unidos
Fil: Charbonnier, Louis Marie. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos
Fil: Benamar, Mehdi. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos
Fil: Motrich, Ruben Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; Argentina
Fil: Chatila, Talal A.. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos
Fil: Rivero, Virginia Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; Argentina - Materia
-
CVID
Score
Mortality
Outcomes
WES
B cells subpopulations
T cells - Nivel de accesibilidad
- acceso abierto
- Condiciones de uso
- https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
- Repositorio
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/266843
Ver los metadatos del registro completo
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oai:ri.conicet.gov.ar:11336/266843 |
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Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiencyKahn, Adrian MarioLuque, GabrielaCuestas, EduardoBasquiera, Ana LisaRicchi, BrendaSchmitz Abe, KlausCharbonnier, Louis MarieBenamar, MehdiMotrich, Ruben DarioChatila, Talal A.Rivero, Virginia ElenaCVIDScoreMortalityOutcomesWESB cells subpopulationsT cellshttps://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Background: Common Variable Immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity (IEI). Although several aspects of CVID immunopathology have been elucidated, predictive factors for mortality are incompletely defined. A genetic cause can only be identified in approximately 30% of patients. Objectives: To develop a mortality predictive score based on the immunophenotypes and genotypes of CVID patients. Methods: Twenty-one patients diagnosed with CVID in Cordoba, Argentina, were analyzed for clinical and laboratory data. Immunophenotyping was done by flow cytometry. CVID-associated mutations were identified by whole exome sequencing (WES). Results: Live (15) and deceased (6) patients were compared. Univariate analysis showed significant differences in CD4+ T cells (p=0.002), Natural Killer (NK) cells (p=0.001) and memory switched B cells (p=0.001) between groups. Logistic regression analysis showed a negative correlation between CD4, NK and memory switched B cells counts and probability of survival over a 10-year period [CD4+ T cells: OR 1.01 (95% CI: 1.001- 1,020); NK cells: OR 1.07 (95% CI:1.02-1.17) and memory switched B cells: OR 26.23 (95% CI: 2.06-2651.96). ROC curve analysis identified a survival cut off point for each parameter: CD4+ T cells 546 cell/ml AUC 0.87 (sensitivity 60%-specificity 100%), memory switched B cells 0.84 cells/ml AUC 0.92 (sensitivity 100%-specificity 85%), NK cells 45 cells/ml for AUC 0.92 (sensitivity 83%-specificity 100%), %). Genetic analysis on 14 patients from the cohort (9 females, 5 males) revealed mutations associated with IEI in 6 patients. Conclusions: A score to predict mortality is proposed based on CD4, NK and memory switched B cell number in patients with CVID.Fil: Kahn, Adrian Mario. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina. Centro de Inmunologia Clinica de Cordoba; ArgentinaFil: Luque, Gabriela. Hospital Privado Universitario de Cordoba.; ArgentinaFil: Cuestas, Eduardo. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; ArgentinaFil: Basquiera, Ana Lisa. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; ArgentinaFil: Ricchi, Brenda. Hospital Privado Universitario de Cordoba.; ArgentinaFil: Schmitz Abe, Klaus. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos. Jackson Health System; Estados UnidosFil: Charbonnier, Louis Marie. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados UnidosFil: Benamar, Mehdi. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados UnidosFil: Motrich, Ruben Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; ArgentinaFil: Chatila, Talal A.. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados UnidosFil: Rivero, Virginia Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; ArgentinaElsevier2024-11info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/266843Kahn, Adrian Mario; Luque, Gabriela; Cuestas, Eduardo; Basquiera, Ana Lisa; Ricchi, Brenda; et al.; Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency; Elsevier; Journal of Allergy and Clinical Immunology: Global; 3; 4; 11-2024; 1-362772-8293CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2772829324001073info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jacig.2024.100311info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:05:31Zoai:ri.conicet.gov.ar:11336/266843instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:05:31.817CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse |
dc.title.none.fl_str_mv |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
title |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
spellingShingle |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency Kahn, Adrian Mario CVID Score Mortality Outcomes WES B cells subpopulations T cells |
title_short |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
title_full |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
title_fullStr |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
title_full_unstemmed |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
title_sort |
Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency |
dc.creator.none.fl_str_mv |
Kahn, Adrian Mario Luque, Gabriela Cuestas, Eduardo Basquiera, Ana Lisa Ricchi, Brenda Schmitz Abe, Klaus Charbonnier, Louis Marie Benamar, Mehdi Motrich, Ruben Dario Chatila, Talal A. Rivero, Virginia Elena |
author |
Kahn, Adrian Mario |
author_facet |
Kahn, Adrian Mario Luque, Gabriela Cuestas, Eduardo Basquiera, Ana Lisa Ricchi, Brenda Schmitz Abe, Klaus Charbonnier, Louis Marie Benamar, Mehdi Motrich, Ruben Dario Chatila, Talal A. Rivero, Virginia Elena |
author_role |
author |
author2 |
Luque, Gabriela Cuestas, Eduardo Basquiera, Ana Lisa Ricchi, Brenda Schmitz Abe, Klaus Charbonnier, Louis Marie Benamar, Mehdi Motrich, Ruben Dario Chatila, Talal A. Rivero, Virginia Elena |
author2_role |
author author author author author author author author author author |
dc.subject.none.fl_str_mv |
CVID Score Mortality Outcomes WES B cells subpopulations T cells |
topic |
CVID Score Mortality Outcomes WES B cells subpopulations T cells |
purl_subject.fl_str_mv |
https://purl.org/becyt/ford/3.2 https://purl.org/becyt/ford/3 |
dc.description.none.fl_txt_mv |
Background: Common Variable Immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity (IEI). Although several aspects of CVID immunopathology have been elucidated, predictive factors for mortality are incompletely defined. A genetic cause can only be identified in approximately 30% of patients. Objectives: To develop a mortality predictive score based on the immunophenotypes and genotypes of CVID patients. Methods: Twenty-one patients diagnosed with CVID in Cordoba, Argentina, were analyzed for clinical and laboratory data. Immunophenotyping was done by flow cytometry. CVID-associated mutations were identified by whole exome sequencing (WES). Results: Live (15) and deceased (6) patients were compared. Univariate analysis showed significant differences in CD4+ T cells (p=0.002), Natural Killer (NK) cells (p=0.001) and memory switched B cells (p=0.001) between groups. Logistic regression analysis showed a negative correlation between CD4, NK and memory switched B cells counts and probability of survival over a 10-year period [CD4+ T cells: OR 1.01 (95% CI: 1.001- 1,020); NK cells: OR 1.07 (95% CI:1.02-1.17) and memory switched B cells: OR 26.23 (95% CI: 2.06-2651.96). ROC curve analysis identified a survival cut off point for each parameter: CD4+ T cells 546 cell/ml AUC 0.87 (sensitivity 60%-specificity 100%), memory switched B cells 0.84 cells/ml AUC 0.92 (sensitivity 100%-specificity 85%), NK cells 45 cells/ml for AUC 0.92 (sensitivity 83%-specificity 100%), %). Genetic analysis on 14 patients from the cohort (9 females, 5 males) revealed mutations associated with IEI in 6 patients. Conclusions: A score to predict mortality is proposed based on CD4, NK and memory switched B cell number in patients with CVID. Fil: Kahn, Adrian Mario. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina Fil: Luque, Gabriela. Hospital Privado Universitario de Cordoba.; Argentina Fil: Cuestas, Eduardo. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina Fil: Basquiera, Ana Lisa. Hospital Privado Universitario de Cordoba.; Argentina. Instituto Universitario de Ciencias Biomédicas de Córdoba; Argentina Fil: Ricchi, Brenda. Hospital Privado Universitario de Cordoba.; Argentina Fil: Schmitz Abe, Klaus. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos. Jackson Health System; Estados Unidos Fil: Charbonnier, Louis Marie. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos Fil: Benamar, Mehdi. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos Fil: Motrich, Ruben Dario. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; Argentina Fil: Chatila, Talal A.. Boston Childrens Hospital; Estados Unidos. Harvard Medical School; Estados Unidos Fil: Rivero, Virginia Elena. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Córdoba. Centro de Investigaciones en Bioquímica Clínica e Inmunología; Argentina. Centro de Inmunologia Clinica de Cordoba; Argentina. Universidad Nacional de Córdoba. Facultad de Ciencias Químicas. Departamento de Bioquímica Clínica; Argentina |
description |
Background: Common Variable Immunodeficiency (CVID) is the most common symptomatic syndrome among inborn errors of immunity (IEI). Although several aspects of CVID immunopathology have been elucidated, predictive factors for mortality are incompletely defined. A genetic cause can only be identified in approximately 30% of patients. Objectives: To develop a mortality predictive score based on the immunophenotypes and genotypes of CVID patients. Methods: Twenty-one patients diagnosed with CVID in Cordoba, Argentina, were analyzed for clinical and laboratory data. Immunophenotyping was done by flow cytometry. CVID-associated mutations were identified by whole exome sequencing (WES). Results: Live (15) and deceased (6) patients were compared. Univariate analysis showed significant differences in CD4+ T cells (p=0.002), Natural Killer (NK) cells (p=0.001) and memory switched B cells (p=0.001) between groups. Logistic regression analysis showed a negative correlation between CD4, NK and memory switched B cells counts and probability of survival over a 10-year period [CD4+ T cells: OR 1.01 (95% CI: 1.001- 1,020); NK cells: OR 1.07 (95% CI:1.02-1.17) and memory switched B cells: OR 26.23 (95% CI: 2.06-2651.96). ROC curve analysis identified a survival cut off point for each parameter: CD4+ T cells 546 cell/ml AUC 0.87 (sensitivity 60%-specificity 100%), memory switched B cells 0.84 cells/ml AUC 0.92 (sensitivity 100%-specificity 85%), NK cells 45 cells/ml for AUC 0.92 (sensitivity 83%-specificity 100%), %). Genetic analysis on 14 patients from the cohort (9 females, 5 males) revealed mutations associated with IEI in 6 patients. Conclusions: A score to predict mortality is proposed based on CD4, NK and memory switched B cell number in patients with CVID. |
publishDate |
2024 |
dc.date.none.fl_str_mv |
2024-11 |
dc.type.none.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion http://purl.org/coar/resource_type/c_6501 info:ar-repo/semantics/articulo |
format |
article |
status_str |
publishedVersion |
dc.identifier.none.fl_str_mv |
http://hdl.handle.net/11336/266843 Kahn, Adrian Mario; Luque, Gabriela; Cuestas, Eduardo; Basquiera, Ana Lisa; Ricchi, Brenda; et al.; Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency; Elsevier; Journal of Allergy and Clinical Immunology: Global; 3; 4; 11-2024; 1-36 2772-8293 CONICET Digital CONICET |
url |
http://hdl.handle.net/11336/266843 |
identifier_str_mv |
Kahn, Adrian Mario; Luque, Gabriela; Cuestas, Eduardo; Basquiera, Ana Lisa; Ricchi, Brenda; et al.; Immunological biomarkers associated with survival in a cohort of Argentinian patients with common variable immunodeficiency; Elsevier; Journal of Allergy and Clinical Immunology: Global; 3; 4; 11-2024; 1-36 2772-8293 CONICET Digital CONICET |
dc.language.none.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2772829324001073 info:eu-repo/semantics/altIdentifier/doi/10.1016/j.jacig.2024.100311 |
dc.rights.none.fl_str_mv |
info:eu-repo/semantics/openAccess https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
eu_rights_str_mv |
openAccess |
rights_invalid_str_mv |
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/ |
dc.format.none.fl_str_mv |
application/pdf application/pdf application/pdf |
dc.publisher.none.fl_str_mv |
Elsevier |
publisher.none.fl_str_mv |
Elsevier |
dc.source.none.fl_str_mv |
reponame:CONICET Digital (CONICET) instname:Consejo Nacional de Investigaciones Científicas y Técnicas |
reponame_str |
CONICET Digital (CONICET) |
collection |
CONICET Digital (CONICET) |
instname_str |
Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.name.fl_str_mv |
CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas |
repository.mail.fl_str_mv |
dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar |
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1844613892619108352 |
score |
13.070432 |