FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 107 ID (Ontology) DOID:0061076 (Human Disease)
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.
Also Known As "immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection"
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lower respiratory tract disease
 |__lung disease______________________
autosomal genetic disease             |
 |__autosomal dominant disease________|
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 107
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Is a autosomal dominant disease
primary immunodeficiency disease
lung disease
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Synonyms
  • "immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection" EXACT
Secondary IDs
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MIM:619986