Term Name: immunodeficiency 107
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 )

Relationships
is a type of: autosomal dominant disease lung disease primary immunodeficiency disease