Article

A Novel Loss of Function Variant of SLC19A1 Presented with Immunodeficiency and Benefited from Folinic Acid Treatment

2022-08-16

Abstract excerpt

<title>Abstract</title> <p> Insufficient dietary folate intake, hereditary malabsorption, or defects in folate metabolism may lead to combined immunodeficiency (CID). Although loss of function mutations in the major intestinal folate transporter <italic>PCFT/SLC46A1</italic> was shown to be associated with CID, the evidence for pathogenic variants of <italic>RFC/SLC19A1</italic> resulting in immunodeficiency...

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Literature Corpus work: 57d6003a-a3ac-5e4f-bb7a-8d1ceeb6a037
DOI: 10.21203/rs.3.rs-1866280/v2

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