Conditions / Immune
immunodeficiency 107
info · Immune
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
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.
Signs and symptoms
- Pyoderma gangrenosum
- Cutaneous abscess
- Chronic furunculosis
- Immunodeficiency
Also known as: immunodeficiency 107 with susceptibility to invasive Staphylococcus aureus infection