| 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/27522155/, https://pubmed.ncbi.nlm.nih.gov/27242165/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:1179284005 |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD52 [EXACT] severe combined immunodeficiency due to LAT deficiency [EXACT] |
| Parent Relationships |
is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |