MTHFD1 Deficiency in Two Unrelated Children: Highlights on Phenotypic Spectrum and Response to Folic Acid Therapy
{{output}}
Background and aims: Methylene-tetrahydrofolate dehydrogenase 1 (MTHFD1) deficiency is a rare inborn error of immunity (IEI) involving defects in folate metabolism. It can present with combined immunodeficiency and variable pheno... ...
