J Pediatr Hematol Oncol 2021 Mar 31. Epub 2021 Mar 31.
Department of Neurosciences, Rehabilitation, Ophthalmology, Genetic, and Maternal and Infant Health (DINOGMI), University of Genoa Haematology Unit Molecular Genetic Unit Clinica Pediatrica e Reumatologia, IRCCS Istituto G. Gaslini, Genoa, Italy Sechenov First Moscow State Medical University, Moscow, Russian Federation.
Background: Functional variants of the cytotoxic T-lymphocyte antigen-4 (CTLA4) could contribute to the pathogenesis of disorders characterized by abnormal T-cell responses.
Case Presentation: We report a case of a 13-year-old girl who first presented with polyarticular juvenile idiopathic arthritis poorly responsive to treatment. During the following years the patient developed cytopenias, chronic lymphoproliferation, high values of T-cell receptor αβ+ CD4- CD8- double-negative T cells and defective Fas-mediated T cells apoptosis. Read More