Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
ORPHA:444463· ICD-10 D89.8
Definition
A rare genetic immune disease characterized by infantile or childhood onset of combined immunodeficiency with recurrent viral, bacterial, and fungal infections, severe autoimmunity mainly manifesting as antibody-mediated destruction of red blood cells, platelets, and neutrophils, and mild to moderate developmental delay. Laboratory findings include decreased circulating T-, B-, and natural killer cells, and hypergammaglobulinemia.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy