Term Name: immunodeficiency 48
Synonyms: combined immunodeficiency due to ZAP70 deficiency, IMD48, zeta-associated-protein 70 deficiency
Definition: A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2.
Ontology: Human Disease [DOID:0111943]   ( DOID:0111943 )

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