Severe infections or suspected immunodeficiency: A00–B99 G00–G09 J00–J22 L00–L08 N10–N12, N30 T81.4 Z22
Conditions
Interventions
Group 1: The study includes patients with unusually severe infections or a clinical suspicion of congenital or somatic immunodeficiency. All patient recruitment and sample collection will take place e
Sponsors
Centre d'Etudes des Déficits Immunitaires (CEDI), Hôpital Necker - Enfants Malades
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: Patients with rare genetic disorders affecting the ribosome and the translation machinery
Exclusion criteria
Exclusion criteria: None
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The aim of the study is to systematically characterize the immunological, clinical, and developmentally dependent features of a rare, severe monogenic disease across the lifespan, in order to better understand its pathophysiology and identify targets for future therapies. | — |
Secondary
| Measure | Time frame |
|---|---|
| Reaching of a mechanistic understanding of the disease origin and development. | — |
Countries
France
Contacts
Public ContactJonathan Bohlen
Genzentrum der LMU
Outcome results
None listed