Preferred Label : Severe Combined Immunodeficiency due to RAG Deficiency without Omenn Syndrome;
NCIt related terms : SCID, T-B-NK (RAG mutation) without Omenn Syndrome;
NCIt 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.;
Origin ID : C212081;
disease_has_primary_anatomic_site
- disease_mapped_to_gene
- disease_may_have_associated_disease
