| 1 | RAC1, RAC2, SCIDBL |
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| Buckley RH. | |
| Annu Rev Immunol 22:625-55. Review. 2004 | |
| 2 | RAC1, RAC2, SCIDBL |
| Detection of RAG mutations and prenatal diagnosis in families presenting with either T-B- severe combined immunodeficiency or Omenn's syndrome. | |
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| 3 | RAC1, RAC2, SCIDBL |
| Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B-severe combined immune deficiency or Omenn syndrome. | |
| Corneo B, Moshous D, Güngör T, Wulffraat N, Philippet P, Le Deist FL, Fischer A, de Villartay JP. | |
| Blood 97(9):2772-6. 2001 | |
| 4 | SCIDBL |
| RAG mutations in human B cell-negative SCID. | |
| Schwarz K, et al. | |
| Science 274 : 97-99. 1996 | |