Severe Combined Immunodeficiency due to RAG2 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the RAG2 gene, encoding V(D)J recombination-activating protein 2. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.

**Synonyms:** - RAG2 Deficiency - SCID-RAG2 - Severe Combined Immunodeficiency, T cell-Negative, B cell-Negative, RAG2