Term Name: | immunodeficiency 107 |
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Synonyms: | immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection |
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. |
Ontology: | Human Disease [DOID:0061076] ( DOID:0061076 ) |