| Metadata | |
|---|---|
| ID | DOID:0111977 |
| Name | immunodeficiency 7 |
| Definition | A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. https://pubmed.ncbi.nlm.nih.gov/21206088/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IMD7 [EXACT] immunodeficiency 7, TCR-alpha/beta deficient [EXACT] TCR-alpha-beta-positive T-cell deficiency [EXACT] |
| Parent Relationships |
is_a T cell deficiency |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |