Recombinase activating gene 1 deficiency

Recombinase activating gene 1 deficiency

Definition

A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes.

Also known as recombinase activating gene 1 deficiency — per MONDO

Also identified as