| Metadata | |
|---|---|
| ID | DOID:0061076 |
| PURL | http://purl.obolibrary.org/obo/DOID_0061076 Copy |
| Name | immunodeficiency 107 |
| Definition | A primary immunodeficiency disease that is characterized by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs and that has_material_basis_in heterozygous mutation in the OTULIN gene on chromosome 5p15. https://pubmed.ncbi.nlm.nih.gov/35587511/ |
| Xrefs | |
| Synonyms |
immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection [EXACT] |
| Parent Relationships |
is_a lung disease |