Severe Combined Immunodeficiency due to RAG1 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** An inherited condition caused by mutation(s) in the RAG1 gene, encoding V(D)J recombination-activating protein 1. It is characterized by severe combined immunodeficiency that is both T-cell and B-cell negative.

**Synonyms:** - RAG1 Deficiency - SCID-RAG1 - Severe Combined Immunodeficiency, T cell-Negative, B cell-Negative, RAG1