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A novel ELF4 gene variant disrupts T and NK cell function in a patient with immune thrombocytopenia (ITP)NARA Subscribed
Objective and design In this report, we identified a novel hemizygous ELF4 variant (c.1822G > C; p.Gly608Arg) in an adolescent male with chronic immune thrombocytopenia (ITP) and performed functional immunologic characterization. Materials and methods Peripheral blood mononuclear cells (PBMCs) of the patient and age-matched controls were characterized by flow cytometry with respect to T cell phenotype, activation, proliferatio...
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