Publications by authors named "Reem A El-Feky"
Article Synopsis
- Patients with RAG mutations exhibit various immune-related disorders, including severe combined immune deficiency (SCID), autoimmunity, and inflammation, but there's a lack of detailed research on the immune dysregulation associated with these conditions.
- Patients with specific RAG mutations (like hypomorphic/ delayed-onset CID-G/AI) produce a wider variety of autoantibodies, particularly after severe viral infections, suggesting a unique immune response not seen in other primary immunodeficiencies.
- Experimental studies on RAG-deficient mice reveal that exposure to certain viral-sensing receptor agonists can trigger the production of autoantibodies, highlighting the role of environmental factors in amplifying immune dysregulation in RAG-related immun
Background: The recombination-activating gene (RAG) 1/2 proteins play a critical role in the development of T and B cells by initiating the VDJ recombination process that leads to generation of a broad T-cell receptor (TCR) and B-cell receptor repertoire. Pathogenic mutations in the RAG1/2 genes result in various forms of primary immunodeficiency, ranging from T(-)B(-) severe combined immune deficiency to delayed-onset disease with granuloma formation, autoimmunity, or both. It is not clear what contributes to such heterogeneity of phenotypes.
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