Article

A novel homozygous germline mutation in transferrin receptor 1 (TfR1) leads to combined immunodeficiency and provides new insights into iron-immunity axis

2023-11-15

Abstract excerpt

<title>Abstract</title> <p>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 <italic>TFRC</italic> gene coding for TfR1 has been reported so far. We herein ide...

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Literature Corpus work: 2b7c0ecc-54d1-5e91-874d-9708c5782717
DOI: 10.21203/rs.3.rs-3558114/v1

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