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Article

Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.

The journal of allergy and clinical immunology. In practice - 1 Jan 2000

Ramakrishnan Kesava A, Pengelly Reuben J, Gao Yifang, Morgan Mary, Patel Sanjay V, Davies E Graham, Ennis Sarah, Faust Saul N, Williams Anthony P

Abstract excerpt

BACKGROUND: Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. OBJECTIVE: To describe our investigative approach to the molecular diagnosis and evaluation of immune dysfunction in a family with MTHFD1 deficiency. METHODS: The methods used were...

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Source

Identifiers

PMID: 27707659
DOI: 10.1016/j.jaip.2016.07.014

Genes

MTHFD1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency.PMID 27707659Read ↗

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A Novel Loss of Function Variant of SLC19A1 Presented with Immunodeficiency and Benefited from Folinic Acid TreatmentSemantic proximity Read ↗

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