| First Author | Schwarz K | Year | 1996 |
| Journal | Science | Volume | 274 |
| Issue | 5284 | Pages | 97-9 |
| PubMed ID | 8810255 | Mgi Jnum | J:47959 |
| Mgi Id | MGI:1261364 | Doi | 10.1126/science.274.5284.97 |
| Citation | Schwarz K, et al. (1996) RAG mutations in human B cell-negative SCID. Science 274(5284):97-9 |
| abstractText | 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. |
