Clinical manifestations Two family pedigrees of TPPII deficiency patients. Clinically,<unk>  is characterized combined immunodeficiency, severe autoimmunity, and developmental delay. Patients typically present in early childhood with recurrent bacterial and viral infections of the middle ear and respiratory tract. Additionally, patients develop severe, difficult to treat autoimmunity. This autoimmunity includes auto-antibody mediated destruction of red blood cells, neutrophils, and platelets; central nervous system lupus erythematous with stroke; and hepatitis. Patients also have mild to moderate developmental delay. Laboratory manifestations The clinical symptoms are caused by abnormalities of the immune system and disruption of basic cellular functions. Patients show markedly decreased circulating T cells, B cells and natural killer (NK) cells, with severely reduced naive T cells and hypergammaglobulinemia.
TRIANGLE disease
BENTA disease
Pogosta disease
Darier's disease
Freiberg disease
Tornwaldt's disease
Haff disease
Degos disease