Abstract
Clinical Spectrum of SCID: The Key is in the Thymus?
Highlights
A commentary on Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency by Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD. (2011) Front Immunol 2:15. doi:10. 3389/ fimmu.2011.00015
RAG defects with residual recombination activity give rise to the Omenn syndrome, which is characterized by erythroderma, eosinophilia, hyper IgE, and the presence of oligoclonal autoreactive T-cells [2]
The lig4R/R mice have a leaky severe combined immunodeficiency (SCID) phenotype without features of Omenn syndrome [10]. Both rag1S/S and lig4R/R mice showed a significant reduction in thymus size and cellularity due to decreased absolute numbers of CD4+CD8+ double positive (DP) as well as of CD4 and CD8 single positive (SP) thymocytes
Summary
A commentary on Abnormalities of thymic stroma may contribute to immune dysregulation in murine models of leaky severe combined immunodeficiency by Rucci F, Poliani PL, Caraffi S, Paganini T, Fontana E, Giliani S, Alt FW, Notarangelo LD. (2011) Front Immunol 2:15. doi:10. 3389/ fimmu.2011.00015. Genetic defects in the recombination activating genes, RAG1 and RAG2 are known to impair V(D)J recombination in developing B and T-cells, thereby causing T-B-severe combined immunodeficiency (SCID) [1].
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