Metadata | |
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ID | DOID:0061076 |
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 autosomal dominant disease is_a primary immunodeficiency disease is_a lung disease |
Subclass Logical Relationships |
disease has location some lung and disease has location some (disease has location some zone of skin) has material basis in some autosomal dominant inheritance |