Ultra-Rare Immune Disorder Uncovered
Immune Dysregulation Caused by Homozygous Mutations in CBLB
Homeostasis of the immune system is key for human health. Recently, CENTOGENE carried out an analysis of clinical and genetic data from the CENTOGENE Biodatabank, which enabled the identification of patients with an ultra-rare immune dysregulation disorder characterized by autoimmunity and recurrent systemic infections. All patient-presented homozygous variants in CBLB have been predicted to affect protein function and/or expression. The findings were validated by experiments conducted in disease models and cells and confirmed the causative role of specific CBLB genetic variation. This was done in collaboration with scientists and doctors from Boston Children's Hospital.
- Erin Janssen
- et al.