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Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment - Genes & Immunity

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Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment - Genes & Immunity

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

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Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment - Genes & Immunity

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Immunodeficiency associated with a novel functionally defective variant of SLC19A1 benefits from folinic acid treatment - Genes & Immunity

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