| Metadata | |
|---|---|
| ID | DOID:0061093 |
| Name | immunodeficiency 128 |
| Definition | A T cell, B cell, and NK cell deficiency that is characterized by the onset of recurrent bacterial and viral infections in the first year of life and that has_material_basis_in homozygous mutation in the COPG1 gene on chromosome 3q21. https://pubmed.ncbi.nlm.nih.gov/33529166/ |
| Xrefs | |
| Parent Relationships | |
| Subclass Logical Relationships |
existence starts during some (Infantile onset or Neonatal onset) has material basis in some autosomal recessive inheritance |