immunodeficiency 52 (DOID:0111983)
Alliance: disease page
Synonyms: IMD52; severe combined immunodeficiency due to LAT deficiency
Alt IDs: OMIM:617514, ORDO:504523, UMLS_CUI:C4479588
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.