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combined immunodeficiency due to partial RAG1 deficiency

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Uniprot Description An immunological disorder characterized by oligoclonal expansion of TCR gamma/delta T-cells, TCR alpha/beta T-cell lymphopenia, severe, disseminated cytomegalovirus infection and autoimmune cytopenia.
Mondo Term and Equivalent IDs
MONDO:0012359:  combined immunodeficiency due to partial RAG1 deficiency
MESH:C563691: 
Orphanet:231154: 
SCTID:725290000: 
UMLS:C1835931: 
UMLS:C4510944: