Publications by authors named "Reem 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: Rheumatic diseases in children are associated with significant morbidity and poor health-related quality of life (HRQOL). There is no health-related quality of life (HRQOL) scale available specifically for children with less common rheumatic diseases. These diseases share several features with systemic lupus erythematosus (SLE) such as their chronic episodic nature, multi-systemic involvement, and the need for immunosuppressive medications.
View Article and Find Full Text PDFBackground: 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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