Systemic Lupus Erythematosus (SLE) M32, Monogenic RASopathies, SHOC2 gain-of-function
Conditions
Interventions
Group 1: For study participants, peripheral blood will primarily be collected for phenotypic and functional assessment of leukocytes whenever possible during medically necessary blood draws. In some c
Sponsors
Haunersche Kinderpoliklinik
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with a diagnosed genetic disease are eligible for recruitment
Exclusion criteria
Exclusion criteria: Lack of informed consent from the probands or their parents in the case of underaged-probands Reaching of adulthood and lack of informed consent at this stage
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aim of the study is to systematically characterize the immunological, clinical, and age-dependent features of a rare, severe monogenic disease across the lifespan in order to better understand its pathophysiology and identify potential targets for future therapies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Discovery of molecular causes of defective immune tolerance | — |
Countries
Germany
Contacts
Public ContactJonathan Bohlen
Genzentrum der LMU
Outcome results
None listed