title: Unexplained lymphadenopathies: autoimmune lymphoproliferative syndrome in an adult patient.
abstract: 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.
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova Gaia, Porto, Portugal.
authors.forename: Fatima
authors.initials: F
authors.lastname: Leal-Seabra
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova Gaia, Porto, Portugal.
authors.forename: Gonçalo Sarmento
authors.initials: GS
authors.lastname: Costa
authors.affiliation: Hematology Service, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova Gaia, Porto, Portugal.
authors.forename: Henrique Pereira
authors.initials: HP
authors.lastname: Coelho
authors.affiliation: Department of Internal Medicine, Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova Gaia, Porto, Portugal.
authors.forename: Agripino
authors.initials: A
authors.lastname: Oliveira
mesh_terms: D000328:Adult; D056735:Autoimmune Lymphoproliferative Syndrome / Q000175:diagnosis* / Q000276:immunology; D001706:Biopsy; D003937:Diagnosis, Differential; D006801:Humans; D008198:Lymph Nodes / Q000000981:diagnostic imaging; D008297:Male; D013601:T-Lymphocytes / Q000276:immunology*; D014057:Tomography, X-Ray Computed