Combined immunodeficiency due to partial RAG1 deficiency
Engelsk navn: Combined immunodeficiency due to partial RAG1 deficiency
Engelske synonym: CID due to partial RAG1 deficiency,CID with expansion of gamma delta T cells,Combined immunodeficiency with expansion of gamma delta T cells
Definisjon
Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.
Fra Orphanet
ORPHA: 231154
Klassifiseringsnivå: Disorder
ICD-10: D81.8