Patients with mutations in the recombination activating gene

Last updated: 5/17/2023

Patients with mutations in the recombination activating gene 1 RAG1 frequently present with severe combined immunodeficiency and very low or undetectable levels of antibodies A likely explanation for this defect could be hout A out B The inability of Rag1 to form a complex with Rag2 and activate the transcription of the recombined immunoglobulin genes The inability of the Rag1 to form a complex with Rag2 and initiate V D J recombination by binding and cleaving the RSS also known as RS sequences out C A defect in the secretion of the immunoglobulin genes out D The inability of the Rag 1 2 complex to bind to the immunoglobulin encoding mRNA and splice out