A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis
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DOI: 10.1007/s10875-024-01658-0
Abstract: A homozygous missense mutation in the transferrin receptor 1 (TfR1), also known as CD71, leads to a rare inborn error of immunity (IEI) characterized by the impaired lymphocyte activation and proliferation due to defective iron… read more here.
Keywords: homozygous germline; mutation transferrin; germline mutation; mutation ... See more keywords