Severe Combined Immunodeficiency due to RAG Deficiency without Omenn Syndrome

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.;

Details

Origin ID

C212081;

disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_mapped_to_gene
- RAG1 Gene [NCIt concept]
- RAG2 Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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