Term Name: | recombinase activating gene 1 deficiency |
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Synonyms: | |
Definition: | A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. |
Ontology: | Human Disease [DOID:0060011] ( DOID:0060011 ) |