Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation
We report a child with Omenn syndrome (OS) due to homozygous RAG1-C2633T mutations who had an unusual clinical and immunological presentation. She had delayed onset of OS-associated clinical features, had cleared a number of potentially fatal pathogens including respiratory syncytial virus, parainfl...
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Bibliographische Detailangaben
| Veröffentlicht in: | Clinical immunology (Orlando, Fla.). - 1999. - 131(2009), 3 vom: 15. Juni, Seite 447-55
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| 1. Verfasser: |
McCusker, Christine
(VerfasserIn) |
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| Weitere Verfasser: |
Hotte, Simon,
Le Deist, Francoise,
Hirschfeld, Aaron F,
Mitchell, David,
Nguyen, Van-Hung,
Gagnon, Remi,
Mazer, Bruce,
Turvey, Stuart E,
Jabado, Nada |
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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, Non-U.S. Gov't
Homeodomain Proteins
RAG-1 protein
128559-51-3 |
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