immunodeficiency 7 (DOID:0111977)
Alliance: disease page
Synonyms: IMD7; immunodeficiency 7, TCR-alpha/beta deficient; TCR-alpha-beta-positive T-cell deficiency
Alt IDs: OMIM:615387, ORDO:397959, UMLS_CUI:C3809332
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.