Term Name: immunodeficiency 52
Synonyms: IMD52, severe combined immunodeficiency due to LAT deficiency
Definition: A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2.
Ontology: Human Disease [DOID:0111983]   ( DOID:0111983 )

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