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Article

Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.

Clinical immunology (Orlando, Fla.) - 1 Dec 2009

Borzutzky Arturo, Crompton Brian, Bergmann Anke K, Giliani Silvia, Baxi Sachin, Martin Madelena, Neufeld Ellis J, Notarangelo Luigi D

Abstract excerpt

Hereditary folate malabsorption is a rare inborn error of metabolism due to mutations in the proton-coupled folate transporter (PCFT). Clinical presentation of PCFT deficiency may mimic severe combined immune deficiency (SCID). We report a 4-month-old female who presented with failure to thrive, normocytic anemia, Pneumocystis jirovecii pneumonia and systemic cytomegalovirus infection. Immunological evaluation...

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Identifiers

PMID: 19740703
DOI: 10.1016/j.clim.2009.08.006
PMCID: PMC2783538

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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