Staphylococcus Aureus Infection

Immunodeficiency-107 (IMD107) is an autosomal dominant disorder caused by heterozygous OTULIN mutations, leading to susceptibility to severe, life-threatening invasive Staphylococcus aureus infections primarily affecting the skin and lungs. The condition exhibits incomplete penetrance and variable expressivity, with normal immune cell counts and function; however, fibroblasts and other nonhematopoietic barrier cells display increased vulnerability to S. aureus alpha-toxin, indicating a primary defect in structural or barrier tissues rather than immune cells.