Autoimmune lymphoproliferative syndrome: a case report
International journal of advanced research(2023)
Abstract
Autoimmunelymphoproliferative syndrome (ALPS), a rare geneticdisorder, is a non-malignant, non-infectiouslymphoproliferationthatalters immune system homeostasis by altering FAS-mediated lymphocyte apoptosis. In the past few years, the diagnosis of ALPS wasalwaysconfusedwithotheridiopathicautoimmune pathologies such as Evans syndrome (which combines autoimmunehemolyticanemia and idiopathicthrombocytosis), histyocytosis or systemic lupus erythematosus. In this article, wepresenta case of a childaged 2 years and 7 months, whopresentedwithprolongedfeverassociatedwith a tumor syndrome consisting of polyadenopathy, hepatomegaly, splenomegaly and recurrentcytopenia. Aftereliminatingother diagnoses, the diagnosis of autoimmunelymphoproliferative syndrome wasretained by the demonstration of the FAS mutation on geneticstudy.
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