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A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency

Purpose: To characterize rheumatological manifestations of GATA2 deficiency. Methods: Single-center, retrospective review of 157 patients with GATA2 deficiency. Disease course, laboratory results, and imaging findings were extracted. In-person rheumatological assessments were performed on selected,...

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Autores principales: Amarnani, Abhimanyu A., Poladian, Katlin R., Marciano, Beatriz E., Daub, Janine R., Williams, Sandra G., Livinski, Alicia A., Hsu, Amy P., Palmer, Cindy L., Kenney, Cara M., Avila, Daniele N., Holland, Steven M., Katz, James D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239896/
https://www.ncbi.nlm.nih.gov/pubmed/32433473
http://dx.doi.org/10.1038/s41598-020-64852-1
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author Amarnani, Abhimanyu A.
Poladian, Katlin R.
Marciano, Beatriz E.
Daub, Janine R.
Williams, Sandra G.
Livinski, Alicia A.
Hsu, Amy P.
Palmer, Cindy L.
Kenney, Cara M.
Avila, Daniele N.
Holland, Steven M.
Katz, James D.
author_facet Amarnani, Abhimanyu A.
Poladian, Katlin R.
Marciano, Beatriz E.
Daub, Janine R.
Williams, Sandra G.
Livinski, Alicia A.
Hsu, Amy P.
Palmer, Cindy L.
Kenney, Cara M.
Avila, Daniele N.
Holland, Steven M.
Katz, James D.
author_sort Amarnani, Abhimanyu A.
collection PubMed
description Purpose: To characterize rheumatological manifestations of GATA2 deficiency. Methods: Single-center, retrospective review of 157 patients with GATA2 deficiency. Disease course, laboratory results, and imaging findings were extracted. In-person rheumatological assessments were performed on selected, available patients. A literature search of four databases was conducted to identify additional cases. Results: Rheumatological findings were identified in 28 patients, out of 157 cases reviewed (17.8%). Twenty-two of those patients (78.6%) reported symptom onset prior to or in conjunction with the molecular diagnosis of GATA2 deficiency. Notable rheumatological manifestations included: piezogenic pedal papules (PPP), joint hyperextensibility, early onset osteoarthritis, ankylosing spondylitis, and seronegative erosive rheumatoid arthritis. In peripheral blood of patients with rheumatological manifestations and GATA2 deficiency, CD4+ CD3+ helper T cells and naïve CD3+ CD4+ CD62L+ CD45RA+ helper T cell subpopulation fractions were significantly lower, while CD8+ cytotoxic T cell fractions were significantly higher, compared to those without rheumatological manifestations and with GATA2 deficiency. No changes in CD19, CD3, or NK populations were observed. Conclusion: GATA2 deficiency is associated with a broad spectrum of rheumatological disease manifestations. Low total helper T lymphocyte proportions and low naïve helper T cell proportions are associated with those most at risk of overt rheumatological manifestations. Further, PPP and joint hyperextensibility may explain some of the nonimmunologically-mediated joint problems encountered in patients with GATA2 deficiency. This catalogue suggests that rheumatological manifestations and immune dysregulation are relatively common in GATA2 deficiency.
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spelling pubmed-72398962020-05-29 A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency Amarnani, Abhimanyu A. Poladian, Katlin R. Marciano, Beatriz E. Daub, Janine R. Williams, Sandra G. Livinski, Alicia A. Hsu, Amy P. Palmer, Cindy L. Kenney, Cara M. Avila, Daniele N. Holland, Steven M. Katz, James D. Sci Rep Article Purpose: To characterize rheumatological manifestations of GATA2 deficiency. Methods: Single-center, retrospective review of 157 patients with GATA2 deficiency. Disease course, laboratory results, and imaging findings were extracted. In-person rheumatological assessments were performed on selected, available patients. A literature search of four databases was conducted to identify additional cases. Results: Rheumatological findings were identified in 28 patients, out of 157 cases reviewed (17.8%). Twenty-two of those patients (78.6%) reported symptom onset prior to or in conjunction with the molecular diagnosis of GATA2 deficiency. Notable rheumatological manifestations included: piezogenic pedal papules (PPP), joint hyperextensibility, early onset osteoarthritis, ankylosing spondylitis, and seronegative erosive rheumatoid arthritis. In peripheral blood of patients with rheumatological manifestations and GATA2 deficiency, CD4+ CD3+ helper T cells and naïve CD3+ CD4+ CD62L+ CD45RA+ helper T cell subpopulation fractions were significantly lower, while CD8+ cytotoxic T cell fractions were significantly higher, compared to those without rheumatological manifestations and with GATA2 deficiency. No changes in CD19, CD3, or NK populations were observed. Conclusion: GATA2 deficiency is associated with a broad spectrum of rheumatological disease manifestations. Low total helper T lymphocyte proportions and low naïve helper T cell proportions are associated with those most at risk of overt rheumatological manifestations. Further, PPP and joint hyperextensibility may explain some of the nonimmunologically-mediated joint problems encountered in patients with GATA2 deficiency. This catalogue suggests that rheumatological manifestations and immune dysregulation are relatively common in GATA2 deficiency. Nature Publishing Group UK 2020-05-20 /pmc/articles/PMC7239896/ /pubmed/32433473 http://dx.doi.org/10.1038/s41598-020-64852-1 Text en © The Author(s) 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
spellingShingle Article
Amarnani, Abhimanyu A.
Poladian, Katlin R.
Marciano, Beatriz E.
Daub, Janine R.
Williams, Sandra G.
Livinski, Alicia A.
Hsu, Amy P.
Palmer, Cindy L.
Kenney, Cara M.
Avila, Daniele N.
Holland, Steven M.
Katz, James D.
A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title_full A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title_fullStr A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title_full_unstemmed A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title_short A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency
title_sort panoply of rheumatological manifestations in patients with gata2 deficiency
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7239896/
https://www.ncbi.nlm.nih.gov/pubmed/32433473
http://dx.doi.org/10.1038/s41598-020-64852-1
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