Patients with mutations in the XIAP/BIRC4 gene

Patients with mutations in the XIAP/BIRC4 gene - XIAP

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

DRKS

Registry ID

DRKS00004592

Enrollment

Registered

2013-01-25

Start date

2012-05-21

Completion date

Unknown

Last updated

2025-04-07

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

D82.3 K50.9 D80.0

Interventions

Group 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 receiv

Eligibility

Sex/Gender

All

Inclusion 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

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

Design outcomes

Primary

Measure	Time frame
Influence of different mutations in XIAP/BIRC4 on intracellular signalling	—

Countries

Germany

Contacts

Public ContactCasten Speckmann

Universitätsklinikum Freiburg Centrum für Chronische Immundefizienz (CCI)

carsten.speckmann@uniklinik-freiburg.de+49 761 270 43090

Outcome results

None listed

Source: DRKS (via WHO ICTRP) · Data processed: Feb 4, 2026