RAG Deficiency: Two Genes, Many Diseases
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-018-0537-4
Abstract: PurposeTo review the clinical and laboratory spectrum of RAG gene defects in humans, and discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune dysregulation, and the current and perspective treatment modalities.MethodsLiterature review and analysis… read more here.
Keywords: treatment; rag deficiency; defects humans; gene defects ... See more keywords
The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2020.00900
Abstract: Background: Variants in recombination-activating genes (RAG) are common genetic causes of autosomal recessive forms of combined immunodeficiencies (CID) ranging from severe combined immunodeficiency (SCID), Omenn syndrome (OS), leaky SCID, and CID with granulomas and/or autoimmunity… read more here.
Keywords: founder; variant; rag deficiency; patients rag ... See more keywords