Term Name: | immunodeficiency 7 |
---|---|
Synonyms: | IMD7, immunodeficiency 7, TCR-alpha/beta deficient, TCR-alpha-beta-positive T-cell deficiency |
Definition: | A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. |
Ontology: | Human Disease [DOID:0111977] ( DOID:0111977 ) |