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Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient

Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(...

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Autores principales: Leal-Seabra, Fatima, Costa, Gonçalo Sarmento, Coelho, Henrique Pereira, Oliveira, Agripino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5174767/
https://www.ncbi.nlm.nih.gov/pubmed/27979843
http://dx.doi.org/10.1136/bcr-2016-216758
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author Leal-Seabra, Fatima
Costa, Gonçalo Sarmento
Coelho, Henrique Pereira
Oliveira, Agripino
author_facet Leal-Seabra, Fatima
Costa, Gonçalo Sarmento
Coelho, Henrique Pereira
Oliveira, Agripino
author_sort Leal-Seabra, Fatima
collection PubMed
description Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(−)CD8(−) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia. Peripheral blood immunophenotyping revealed elevation of the characteristic DNT cells in 8% and high levels of interleukin 10. Histopathological analysis of lymph nodes showed lymphadenitis with paracortical hyperplasia. It was assumed as a probable diagnosis of ALPS, and the procedure was to medicate the patient with steroids. As a result, a significant clinical improvement was achieved, and he has been in remission for 2 years. To our knowledge, this is the first case reported in a Portuguese adult patient.
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spelling pubmed-51747672016-12-22 Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient Leal-Seabra, Fatima Costa, Gonçalo Sarmento Coelho, Henrique Pereira Oliveira, Agripino BMJ Case Rep Article Autoimmune lymphoproliferative syndrome (ALPS) is characterised by massive enlargement of the lymphoid organs, autoimmune cytopenias and a predisposition to develop lymphoid malignancies. The basic defect is a disturbance of the lymphocyte apoptosis, and a high number of circulating TCRab CD3(+)CD4(−)CD8(−) T-cells (double-negative T cells (DNT cells)). We describe a case of a 41-year-old man with fever, hepatosplenomegaly, multiple lymphadenopathy, autoimmune haemolytic anaemia and severe thrombocytopenia. Peripheral blood immunophenotyping revealed elevation of the characteristic DNT cells in 8% and high levels of interleukin 10. Histopathological analysis of lymph nodes showed lymphadenitis with paracortical hyperplasia. It was assumed as a probable diagnosis of ALPS, and the procedure was to medicate the patient with steroids. As a result, a significant clinical improvement was achieved, and he has been in remission for 2 years. To our knowledge, this is the first case reported in a Portuguese adult patient. BMJ Publishing Group 2016-12-14 /pmc/articles/PMC5174767/ /pubmed/27979843 http://dx.doi.org/10.1136/bcr-2016-216758 Text en 2016 BMJ Publishing Group Ltd This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
spellingShingle Article
Leal-Seabra, Fatima
Costa, Gonçalo Sarmento
Coelho, Henrique Pereira
Oliveira, Agripino
Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title_full Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title_fullStr Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title_full_unstemmed Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title_short Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
title_sort unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5174767/
https://www.ncbi.nlm.nih.gov/pubmed/27979843
http://dx.doi.org/10.1136/bcr-2016-216758
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