E31.0 D84 D82 D89
Conditions
Interventions
Group 1: characterization of immune cells from patients with primary immunodeficiencies, e.g. Mutations in AIRE gene. We will perform a series of tests, including single-cell RNA-Seq and functional te
Sponsors
Universitätsklinikum Freiburg
Eligibility
Sex/Gender
All
Age
1 Years to 65 Years
Inclusion criteria
Inclusion criteria: 1.Chronic benign lymphoproliferation (i.e. splenomegaly +/- lymphadenopathy at 2 sites without infectious or malignant cause) AND 2.Autoimmune disease (i.e. AI cytopenia OR inflammatory bowel disease OR CNS inflammatory disease OR interstitial lung disease) OR one of the two above manifestions AND 3.At least one factor indicating a primary immunodeficiency (i.e. infection susceptibility OR additional autoimmune or inflammatory manifestations OR hypogammaglobulinemia OR aberrant immunophenotype OR positive family history OR consanguinity)
Exclusion criteria
Exclusion criteria: No written informed consent of patient or parents (in case of minors) has been obtained
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Detailed analysis of Immunsystem of patients suffering from Treg-PID | — |
Countries
Austria, Finland, France, Germany, Italy, Norway, Sweden, Switzerland, United Kingdom, United States
Contacts
Public ContactOktay Kirak
Zentrum für Kinder- und Jugendmedizin
Outcome results
None listed