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Autoimmune lymphoproliferative syndrome: more than a FAScinating disease

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, s...

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Autores principales: Bride, Karen, Teachey, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2017
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668920/
https://www.ncbi.nlm.nih.gov/pubmed/29123652
http://dx.doi.org/10.12688/f1000research.11545.1
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author Bride, Karen
Teachey, David
author_facet Bride, Karen
Teachey, David
author_sort Bride, Karen
collection PubMed
description Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome. Sirolimus is the best-studied and most effective corticosteroid-sparing therapy for ALPS and should be considered first-line for patients in need of chronic treatment. This review highlights practical clinical considerations for the diagnosis and management of ALPS. Further studies could reveal new proteins and regulatory pathways that are critical for lymphocyte activation and apoptosis.
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spelling pubmed-56689202017-11-08 Autoimmune lymphoproliferative syndrome: more than a FAScinating disease Bride, Karen Teachey, David F1000Res Review Autoimmune lymphoproliferative syndrome (ALPS) is an inherited syndrome characterized by abnormal lymphocyte survival caused by failure of apoptotic mechanisms to maintain lymphocyte homeostasis. This failure leads to the clinical manifestations of non-infectious and non-malignant lymphadenopathy, splenomegaly, and autoimmune pathology, most commonly, autoimmune cytopenias. Since ALPS was first characterized in the early 1990s, insights in disease biology have improved both diagnosis and management of this syndrome. Sirolimus is the best-studied and most effective corticosteroid-sparing therapy for ALPS and should be considered first-line for patients in need of chronic treatment. This review highlights practical clinical considerations for the diagnosis and management of ALPS. Further studies could reveal new proteins and regulatory pathways that are critical for lymphocyte activation and apoptosis. F1000 Research Limited 2017-11-01 /pmc/articles/PMC5668920/ /pubmed/29123652 http://dx.doi.org/10.12688/f1000research.11545.1 Text en Copyright: © 2017 Bride K and Teachey D http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Bride, Karen
Teachey, David
Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title_full Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title_fullStr Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title_full_unstemmed Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title_short Autoimmune lymphoproliferative syndrome: more than a FAScinating disease
title_sort autoimmune lymphoproliferative syndrome: more than a fascinating disease
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5668920/
https://www.ncbi.nlm.nih.gov/pubmed/29123652
http://dx.doi.org/10.12688/f1000research.11545.1
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