Combined immunodeficiency due to CARD11 deficiency
ORPHA:357237· ICD-10 D81.2
Definition
A rare non-severe combined immunodeficiency characterized by normal numbers of T and B lymphocytes, increased numbers of transitional B cells and hypo- to agammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell functions due to CARD11 deficiency. It presents with severe susceptibility to infections, including opportunistic infections.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal