Pathophysiology of Inborn Immunodeficiencies

University of Zurich (UZH)

Status: Enrolling

Conditions: Primary Immune Deficiency Disorder

Treatments: Diagnostic Test: Diagnostic Test

Study type: Observational

Funder types: Other

Identifiers

NCT03422614

Patho_PID

Details and patient eligibility

About

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.

Enrollment: 300 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

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

Trial design

300 participants in 2 patient groups

Patient

Description:

Patients with Primary Immunodeficiency

Treatment:

Diagnostic Test: Diagnostic Test

Control

Description:

Healthy Controls

Treatment:

Diagnostic Test: Diagnostic Test