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Biallelic MTHFD1 variants presenting as severe combined immunodeficiency.
Lee, Ashley Sang Eun; Rotella, Karina; Agyemang, Amanda; Ho, Hsi-En; Oishi, Kimihiko; Cunningham-Rundles, Charlotte.
Afiliación
  • Lee ASE; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: ashleysangeun.lee@mssm.edu.
  • Rotella K; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: karina.rotella@mssm.edu.
  • Agyemang A; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: amanda.agyemang@mountsinai.org.
  • Ho HE; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: his-en.ho@mountsinai.org.
  • Oishi K; 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.
  • Cunningham-Rundles C; Division of Allergy and Immunology, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Electronic address: charlotte.cunningham-rundles@mssm.edu.
Clin Immunol ; 255: 109768, 2023 10.
Article en En | MEDLINE | ID: mdl-37690615

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Inmunodeficiencia Combinada Grave Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article