For the Immunogenetics Special Issue
RAG-dependent primary immunodeficiencies†
Article first published online: 7 SEP 2006
© 2006 Wiley-Liss, Inc.
Volume 27, Issue 12, pages 1174–1184, December 2006
How to Cite
Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P. and Villa, A. (2006), RAG-dependent primary immunodeficiencies. Hum. Mutat., 27: 1174–1184. doi: 10.1002/humu.20408
- Issue published online: 16 OCT 2006
- Article first published online: 7 SEP 2006
- Fondazione CARIPLO, N.O.B.E.L. Project
- FIRB. Grant Number: RBNE019J9W
- FIRB Internazionalizzazione. Grant Number: RBIN04CHXT
- primary immunodeficiency;
- genotype–phenotype correlation
Mutations in recombination activating genes 1 and 2 (RAG1 and RAG2) cause a spectrum of severe immunodeficiencies ranging from classical T cell–B cell–severe combined immunodeficiency (T–B–SCID) and Omenn syndrome (OS) to an increasing number of peculiar cases. While it is well established from biochemical data that the specific genetic defect in either of the RAG genes is the first determinant of the clinical presentation, there is also increasing evidence that environmental factors play an important role and can lead to a different phenotypic expression of a given genotype. However, a better understanding of the mechanisms by which the molecular defect impinges on the cellular phenotype of OS is still lacking. Ongoing studies in knock-in mice could better clarify this aspect. Hum Mutat 27(12), 1174–1184, 2006. © 2006 Wiley-Liss, Inc.