| Metadata | |
|---|---|
| ID | DOID:0061087 |
| Name | immunodeficiency 121 |
| Definition | A severe combined immunodeficiency that is characterized by T-, B-, NK+/- severe combined immunodeficiency associated with failure to thrive, erythrodermia, diarrhea, and alopecia and that has_material_basis_in heterozygous mutation in the PSMB10 gene on chromosome 16q22. https://pubmed.ncbi.nlm.nih.gov/38503300/ |
| Xrefs | |
| Synonyms |
immunodeficiency 121 with autoinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |