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Methylenetetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency is a rare cause of severe combined immunodeficiency (SCID); it presents with megaloblastic anemia and sometimes atypical hemolytic uremic syndrome. In reports of four prior cases, treatment with folic/folinic acid corrected T-cell deficiency and reversed SCID. To read this article in full you will need to make a payment ACAAI Member Login ACAAI Member, full access to the journal is a member benefit.
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