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Summary Literature (0)
DOID:0111983 - immunodeficiency 52

Disease Ontology 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.

Synonyms: IMD52, severe combined immunodeficiency due to LAT deficiency

Xenbase Genes : lat


MIM:
MIM:617514 - IMMUNODEFICIENCY 52; IMD52

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), T cell deficiency (is_a)