| Metadata | |
|---|---|
| ID | DOID:0061068 |
| Name | immunodeficiency 98 |
| Definition | A combined T cell and B cell immunodeficiency that is characterized by recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life and that has_material_basis_in hemizygous mutation in the TLR8 gene on chromosome Xp22. https://pubmed.ncbi.nlm.nih.gov/33512449/ |
| Xrefs | |
| Synonyms |
X-linked immunodeficiency 98 with autoinflammation [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance existence starts during some Pediatric onset |