Pathophysiology of Inborn Immunodeficiencies

Pathophysiologie Angeborener Immundefekte

The pathophysiology of primary immunodeficiencies (PID), which encompass a broad range of different diseases with susceptibility to infection and/or a deregulated inflammatory response, is poorly understood. Available treatments are often not specific for a distinct target and might be associated with side effects. To elucidate pathophysiology of different PIDs, stool, urine, blood, tissue biopsies and/or bone marrow will be collected and analysed for anti-microbial activity and inflammatory response. In a second step, targeted treatment for different PIDs might be developed preclinically and ex vivo according to underlying pathophysiology.

Inclusion Criteria:

• Clinical diagnosis of an inborn error of immunity (primary immunodeficiency, PID)
• Clinically healthy (non-age matched) volunteer

Exclusion Criteria:

• exclusion of an inborn error of immunity
• secondary immunodeficiency
• refusal to enter the study