Severe Combined Immunodeficiency due to RAG Deficiency with Omenn Syndrome

Preferred Label : Severe Combined Immunodeficiency due to RAG Deficiency with Omenn Syndrome;

NCIt related terms : SCID, T-B-NK (RAG mutation) without Omenn Syndrome;

NCIt 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.;

Details

Origin ID

C212080;

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

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