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Metadata
ID DOID:0111983
Name immunodeficiency 52
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.
https://pubmed.ncbi.nlm.nih.gov/27242165/, https://pubmed.ncbi.nlm.nih.gov/27522155/
Xrefs

OMIM:617514

ORDO:504523

UMLS_CUI:C4479588

Synonyms

IMD52 [EXACT]

severe combined immunodeficiency due to LAT deficiency [EXACT]

Parent Relationships

is_a T cell deficiency

is_a autosomal recessive disease

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