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

• OMIM:617514
• ORDO:504523
• SNOMEDCT_US_2023_03_01:1179284005
• UMLS_CUI:C4479588

Ontology

Human Disease   ( DOID:0111983 )