Search Ontology:
Human Disease

immunodeficiency 52

Term ID
DOID:0111983
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. (2)
References
  • MIM:617514
  • ORDO:504523
  • SNOMEDCT_US_2023_03_01:1179284005
  • UMLS_CUI:C4479588
Ontology
Human Disease   ( DOID:0111983 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models