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Note: This record shows only the 20 elements of the WHO Trial Registration Data Set. To view changes that have been made to the source record, or for additional information about this trial, click on the URL below to go to the source record in the primary register.
Register: German Clinical Trials Register
Last refreshed on: 29 June 2014
Main ID:  DRKS00004592
Date of registration: 25/01/2013
Primary sponsor: Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)
Public title: Patients with mutations in the XIAP/BIRC4 gene
Scientific title: Patients with mutations in the XIAP/BIRC4 gene - XIAP
Date of first enrolment: 21/05/2012
Target sample size: 30
Recruitment status: Recruiting
Study type:  observational
Study design:  Allocation: Single arm study;. Masking: Open (masking not used). Control: Uncontrolled/Single arm. Assignment: Single (group). Study design purpose: Diagnostic;  
Countries of recruitment
Key inclusion & exclusion criteria
Inclusion criteria: - patients with XLP-2 disease for whom a mutation in gene BIRC4/XIAP was diagnosed
- signed consent from the patient/parents for underaged patients

Exclusion criteria: - lack of signed consent from the patient/parents for underaged patients

Age minimum: no minimum age
Age maximum: no maximum age
Gender: Both, male and female
Health Condition(s) or Problem(s) studied
D80.0 - Hereditary hypogammaglobulinaemia
D82.3 - Immunodeficiency following hereditary defective response to Epstein-Barr virus
K50.9 - Crohn's disease, unspecified
Intervention 1: Patients with XLP, M. Crohn, EBV-infection, splenomegaly, hypogammaglobulinaemia and/or other symptoms for which a mutation in the gene BIRC4/XIAP was diagnosed. Enrolled patients will receive a venipuncture. Isolated patients cells are then flow cytometrically and genetically analyzed. Moreover, we establish cell lines to perform signalling pathway studies.
Primary Outcome(s)
Influence of different mutations in XIAP/BIRC4 on intracellular signalling
Secondary Outcome(s)
Not applicable
Secondary ID(s)
Source(s) of Monetary Support
Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)
Secondary Sponsor(s)
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