Biallelic MTHFD1 variants presenting as severe combined immunodeficiency

Affiliations

¹ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu.
² Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: karina.rotella@mssm.edu.
³ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: amanda.agyemang@mountsinai.org.
⁴ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: his-en.ho@mountsinai.org.
⁵ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: kimihiko.oishi@jikei.ac.jp.
⁶ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.

Case Reports

Ashley Sang Eun Lee et al. Clin Immunol. 2023 Oct.

. 2023 Oct:255:109768.

doi: 10.1016/j.clim.2023.109768. Epub 2023 Sep 9.

¹ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu.
² Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: karina.rotella@mssm.edu.
³ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: amanda.agyemang@mountsinai.org.
⁴ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: his-en.ho@mountsinai.org.
⁵ Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA; Department of Pediatrics, The Jikei University School of Medicine, Tokyo, Japan. Electronic address: kimihiko.oishi@jikei.ac.jp.
⁶ Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.

No abstract available

Keywords: Folate; Lymphopenia; MTHFD1; Severe combined immunodeficiency.

Conflict of interest statement

Declaration of Competing Interest Authors have nothing to disclose.