Severe Combined Immunodeficiency due to RAG Deficiency with Omenn Syndrome

**Semantic type:** Disease or Syndrome

**Definition:** T-cell negative (T-), B-cell negative (B-) severe combined immunodeficiency (SCID) caused by missense mutation(s) in the RAG1 and/or RAG2 genes, from which proteins encoded for by these gene(s) retain partial biologic activity that result in a less severe form of classical T-B-SCID, along with clinical features of Omenn Syndrome.

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