Main clinical features
TPP2-deficiency, also known as “Immunodeficiency 78 with autoimmunity and developmental delay” (MIM*619920) is a multi-systemic disorder characterized by recurrent infections due to combined immunodeficiency, autoimmune cytopenias and some degree of developmental delay/intellectual disability.
Prevalence
TPP2-deficiency is a very rare condition with only 14 patients described worldwide. However, this condition may be underdiagnosed.
Inheritance
TPP2-deficiency is inherited in an autosomal recessive manner due to bi-allelic variants on the TPP2 gene.
TPP2