Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter
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, nor...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 133(2009), 3 vom: 15. Dez., Seite 287-94
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| 1. Verfasser: |
Borzutzky, Arturo
(VerfasserIn) |
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| Weitere Verfasser: |
Crompton, Brian,
Bergmann, Anke K,
Giliani, Silvia,
Baxi, Sachin,
Martin, Madelena,
Neufeld, Ellis J,
Notarangelo, Luigi D |
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| Format: | Online-Aufsatz
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| Sprache: | English |
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| Veröffentlicht: |
2009
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| Zugriff auf das übergeordnete Werk: | Clinical immunology (Orlando, Fla.)
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| Schlagworte: | Case Reports
Journal Article
Research Support, N.I.H., Extramural
Membrane Transport Proteins
Proton-Coupled Folate Transporter
SLC46A1 protein, human
DNA
9007-49-2
Folic Acid
935E97BOY8
mehr...
Leucovorin
Q573I9DVLP |
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