Details of Disease

General Information of Disease (ID: DISH1G6J)

Disease Name Combined immunodeficiency due to partial RAG1 deficiency
Synonyms
alpha/beta T-cell lymphopenia with gamma/DELTA T-cell expansion, severe CYTOMEGALOVIRUS infection, and autoimmunity; CID due to partial RAG1 deficiency; CID with expansion of gamma delta T cells; combined immunodeficiency with expansion of gamma delta T cells
Definition A form of combined T and B cell immunodeficiency (CID) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Disease Hierarchy
DIS225UQ: T-B- severe combined immunodeficiency
DISH1G6J: Combined immunodeficiency due to partial RAG1 deficiency
Disease Identifiers
MONDO ID
MONDO_0012359
UMLS CUI
C1835931
OMIM ID
609889
MedGen ID
372161
Orphanet ID
231154

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RAG1 OTV131E4 Supportive Autosomal recessive [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.