| Metadata | |
|---|---|
| ID | DOID:0061170 |
| Name | autoinflammation, panniculitis, and dermatosis syndrome |
| Definition | An autoinflammatory disease characterized by neonatal or infantile onset of systemic inflammation, fever, panniculitis, aseptic skin lesions, leukocytosis, neutrophilia, and elevated inflammatory markers, including C-reactive protein, with no overt primary immunodeficiency that has_material_basis_in mutation in the OTULIN gene on chromosome 5p15, that encodes a deubiquitinase with linear linkage specificity. https://pubmed.ncbi.nlm.nih.gov/38630025/, https://pubmed.ncbi.nlm.nih.gov/27559085/, https://pubmed.ncbi.nlm.nih.gov/38652464/, https://pubmed.ncbi.nlm.nih.gov/27523608/ |
| Xrefs | |
| SKOS |
exactMatch MIM:PS617099 |
| Subsets |
DO_rare_slim |
| Parent Relationships |