Our group is interested in rare and undiagnosed immunological diseases that mainly present as autoimmunity, severe allergy, infection susceptibility, and early cancer. Some of the diseases are caused by yet unknown infectious agents, clonal genetic mutations acquired later in life, or other environmental factors. Others are caused by hereditary single gene defects in pathways important for immune cell function.
In hereditary immune diseases, a complex interplay between environment and other genetic variants exist, and leads to a broad array of clinical diseases. The penetrance is often incomplete, meaning that one family member can get a very severe disease, whereas another stays asymptomatic. The same mutation can also lead to seemingly opposed phenotypes. One patient can develop a life-threatening, multisystemic autoimmune disease, whereas another with the same mutation might suffer from recurrent infections.