EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
ORPHA:542301· ICD-10 D82.3
Definition
A rare immune dysregulation disease with immunodeficiency characterized by infantile or childhood onset of a variable phenotype including recurrent/persistent bacterial, fungal, and viral infections with involvement of the skin, lower respiratory tract, and gastrointestinal tract, eczema, allergies, and inflammatory bowel disease, among others. EBV-related smooth muscle tumors have also been reported. Immunophenotyping shows decreased Treg counts, as well as a deficient CD3/CD28 co-stimulation response in CD4+ and CD8+ T-cells.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood