RAG Mutations in Human B Cell-Negative SCID

摘要: Patients with human severe combined immunodeficiency (SCID) can be divided into those B lymphocytes (B + SCID) and without − SCID). Although several genetic causes are known for SCID, the etiology of SCID has not been defined. Six 14 patients tested were found to carry a mutation recombinase activating gene 1 ( RAG-1 ), RAG-2 , or both. This resulted in functional inability form antigen receptors through recombination links defect one site-specific systems disease.