Severe Combined Immunodeficiency due to RAG Deficiency without Omenn Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** A rare severe combined immunodeficiency disorder caused by null mutations in recombination activating gene RAG1 or RAG2. Phenotypically, it is toward the more severe end of the clinical spectrum due to complete arrest of T and B-cell development, without the clinical features of Omenn Syndrome.

**Synonyms:** - SCID, T-B-NK+ (RAG mutation) without Omenn Syndrome