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Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort
BACKGROUND: Primary immunodeficiency is common among patients with autoimmune cytopenia. OBJECTIVE: The purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilita...
Autores principales: | , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100326/ https://www.ncbi.nlm.nih.gov/pubmed/33968040 http://dx.doi.org/10.3389/fimmu.2021.649182 |
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author | Westermann-Clark, Emma Meehan, Cristina Adelia Meyer, Anna K. Dasso, Joseph F. Amre, Devendra Ellison, Maryssa Patel, Bhumika Betensky, Marisol Hauk, Charles Isaac Mayer, Jennifer Metts, Jonathan Leiding, Jennifer W. Sriaroon, Panida Kumar, Ambuj Ayala, Irmel Walter, Jolan E. |
author_facet | Westermann-Clark, Emma Meehan, Cristina Adelia Meyer, Anna K. Dasso, Joseph F. Amre, Devendra Ellison, Maryssa Patel, Bhumika Betensky, Marisol Hauk, Charles Isaac Mayer, Jennifer Metts, Jonathan Leiding, Jennifer W. Sriaroon, Panida Kumar, Ambuj Ayala, Irmel Walter, Jolan E. |
author_sort | Westermann-Clark, Emma |
collection | PubMed |
description | BACKGROUND: Primary immunodeficiency is common among patients with autoimmune cytopenia. OBJECTIVE: The purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilitate early diagnosis and targeted therapy. METHODS: Electronic medical records at a pediatric tertiary care center were reviewed. We selected 154 patients with both AIC and PID (n=17), or AIC alone (n=137) for inclusion in two cohorts. Immunoglobulin levels, vaccine titers, lymphocyte subsets (T, B and NK cells), autoantibodies, clinical characteristics, and response to treatment were recorded. RESULTS: Clinical features associated with AIC-PID included splenomegaly, short stature, and recurrent or chronic infections. PID patients were more likely to have autoimmune hemolytic anemia (AIHA) or Evans syndrome than AIC-only patients. The AIC-PID group was also distinguished by low T cells (CD3 and CD8), low immunoglobulins (IgG and IgA), and higher prevalence of autoantibodies to red blood cells, platelets or neutrophils. AIC diagnosis preceded PID diagnosis by 3 years on average, except among those with partial DiGeorge syndrome. AIC-PID patients were more likely to fail first-line treatment. CONCLUSIONS: AIC patients, especially those with Evans syndrome or AIHA, should be evaluated for PID. Lymphocyte subsets and immune globulins serve as a rapid screen for underlying PID. Early detection of patients with comorbid PID and AIC may improve treatment outcomes. Prospective studies are needed to confirm the diagnostic clues identified and to guide targeted therapy. |
format | Online Article Text |
id | pubmed-8100326 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-81003262021-05-07 Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort Westermann-Clark, Emma Meehan, Cristina Adelia Meyer, Anna K. Dasso, Joseph F. Amre, Devendra Ellison, Maryssa Patel, Bhumika Betensky, Marisol Hauk, Charles Isaac Mayer, Jennifer Metts, Jonathan Leiding, Jennifer W. Sriaroon, Panida Kumar, Ambuj Ayala, Irmel Walter, Jolan E. Front Immunol Immunology BACKGROUND: Primary immunodeficiency is common among patients with autoimmune cytopenia. OBJECTIVE: The purpose of this study is to retrospectively identify key clinical features and biomarkers of primary immunodeficiency (PID) in pediatric patients with autoimmune cytopenias (AIC) so as to facilitate early diagnosis and targeted therapy. METHODS: Electronic medical records at a pediatric tertiary care center were reviewed. We selected 154 patients with both AIC and PID (n=17), or AIC alone (n=137) for inclusion in two cohorts. Immunoglobulin levels, vaccine titers, lymphocyte subsets (T, B and NK cells), autoantibodies, clinical characteristics, and response to treatment were recorded. RESULTS: Clinical features associated with AIC-PID included splenomegaly, short stature, and recurrent or chronic infections. PID patients were more likely to have autoimmune hemolytic anemia (AIHA) or Evans syndrome than AIC-only patients. The AIC-PID group was also distinguished by low T cells (CD3 and CD8), low immunoglobulins (IgG and IgA), and higher prevalence of autoantibodies to red blood cells, platelets or neutrophils. AIC diagnosis preceded PID diagnosis by 3 years on average, except among those with partial DiGeorge syndrome. AIC-PID patients were more likely to fail first-line treatment. CONCLUSIONS: AIC patients, especially those with Evans syndrome or AIHA, should be evaluated for PID. Lymphocyte subsets and immune globulins serve as a rapid screen for underlying PID. Early detection of patients with comorbid PID and AIC may improve treatment outcomes. Prospective studies are needed to confirm the diagnostic clues identified and to guide targeted therapy. Frontiers Media S.A. 2021-04-22 /pmc/articles/PMC8100326/ /pubmed/33968040 http://dx.doi.org/10.3389/fimmu.2021.649182 Text en Copyright © 2021 Westermann-Clark, Meehan, Meyer, Dasso, Amre, Ellison, Patel, Betensky, Hauk, Mayer, Metts, Leiding, Sriaroon, Kumar, Ayala and Walter https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Immunology Westermann-Clark, Emma Meehan, Cristina Adelia Meyer, Anna K. Dasso, Joseph F. Amre, Devendra Ellison, Maryssa Patel, Bhumika Betensky, Marisol Hauk, Charles Isaac Mayer, Jennifer Metts, Jonathan Leiding, Jennifer W. Sriaroon, Panida Kumar, Ambuj Ayala, Irmel Walter, Jolan E. Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title | Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title_full | Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title_fullStr | Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title_full_unstemmed | Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title_short | Primary Immunodeficiency in Children With Autoimmune Cytopenias: Retrospective 154-Patient Cohort |
title_sort | primary immunodeficiency in children with autoimmune cytopenias: retrospective 154-patient cohort |
topic | Immunology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8100326/ https://www.ncbi.nlm.nih.gov/pubmed/33968040 http://dx.doi.org/10.3389/fimmu.2021.649182 |
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