2023
DOI: 10.21203/rs.3.rs-3558114/v1
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A novel homozygous germline mutation in transferrin receptor 1 (TfR1) leads to combined immunodeficiency and provides new insights into iron-immunity axis

Ümran Aba,
Ibrahim Cemal Maslak,
Canberk Ipşir
et al.

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 uptake of cells. However, only one causative mutation (c.58T>C, p.Y20H) in the TFRC gene coding for TfR1 has been reported so far. We herein identified a new disease-causing homozygous germline mutation in the TFRC gene (c.64C>T, p.R22W) (referred to as TfR1R22W from now on) in a … Show more

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