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 )

Relationships
is a type of: autosomal recessive disease T cell deficiency