RAG mutations in human B cell-negative SCID
Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic causes are known for B+ SCID, the etiology of B− SCID has not been defined. Six of 14 B− SCID patients tested were found to carry a...
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| Hauptverfasser: | , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
4 Oct 1996
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| In: |
Science
Year: 1996, Jahrgang: 274, Heft: 5284, Pages: 97-99 |
| ISSN: | 1095-9203 |
| DOI: | 10.1126/science.274.5284.97 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1126/science.274.5284.97 Verlag, lizenzpflichtig, Volltext: https://www.science.org/doi/10.1126/science.274.5284.97 
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| Verfasserangaben: | Klaus Schwarz, George H. Gauss, Leopold Ludwig, Ulrich Pannicke, Zhong Li, Doris Lindner, Wilhelm Friedrich, Reinhard A. Seger, Thomas E. Hansen-Hagge, Stephen Desiderio, Michael R. Lieber, Claus R. Bartram |
| Zusammenfassung: | Patients with human severe combined immunodeficiency (SCID) can be divided into those with B lymphocytes (B+ SCID) and those without (B− SCID). Although several genetic causes are known for B+ SCID, the etiology of B− SCID has not been defined. Six of 14 B− SCID patients tested were found to carry a mutation of the recombinase activating gene 1 (RAG-1), RAG-2, or both. This mutation resulted in a functional inability to form antigen receptors through genetic recombination and links a defect in one of the site-specific recombination systems to a human disease. |
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| Beschreibung: | Gesehen am 09.01.2024 |
| Beschreibung: | Online Resource |
| ISSN: | 1095-9203 |
| DOI: | 10.1126/science.274.5284.97 |