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.

Monogenic Disorder Associated with Autoimmune Lymphoproliferative Syndrome -Like Phenotype: A Systematic Review

“…genes such as FAS, FASL, CASP8 and CASP10, evaluation of STAT3, LRBA and CARD11 genes can be considered. The most common presentation was splenomegaly in 86.2% and hematologic disease in 83.7% of cases followed by autoimmunity in 83.6% of cases, this is the same as what had been observed in the previous studies (16,32,33). Shaili Shah Et.al reported that the earliest and the most common clinical manifestation of ALPS is chronic lymphadenopathy and/or splenomegaly.…”

“…Increased proportion of DNT cells is a required criterion in ALPS diagnosis whereas in our study only in half of patients (56.7%) elevated DNT cells was reported. In our study, elevated DNT cells didn't reported in patients with RASGRP1, KRAS, and ADA2 mutation (31,32).…”