Term Name: | immunodeficiency 52 |
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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 ) |