Immunodeficiency-107 with susceptibility to invasive Staphylococcus aureus infection (IMD107) is an autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. There is incomplete penetrance (about 30%) and variable expressivity. In some patients with heterozygous OTULIN mutations, an infectious agent is not identified, suggesting that low-grade infectious or even noninfectious triggers may play a role in development of the disease. The levels and function of immune cells appear normal; the molecular defect resides in fibroblasts and possibly other nonhematopoietic barrier cells that show increased susceptibility to the detrimental effects of the S. aureus alpha-toxin (Spaan et al., 2022). [from
OMIM]