Diagnosis TRIANGLE disease

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two family pedigrees of tppii deficiency patients.


clinically, triangle disease characterized combined immunodeficiency, severe autoimmunity, , developmental delay. patients typically present in childhood recurrent bacterial , viral infections of middle ear , respiratory tract. additionally, patients develop severe, difficult treat autoimmunity. autoimmunity includes auto-antibody mediated destruction of red blood cells, neutrophils, , platelets; central nervous system lupus erythematous stroke; , hepatitis. patients have mild moderate developmental delay.


laboratory manifestations

the clinical symptoms caused abnormalities of immune system , disruption of basic cellular functions. patients show markedly decreased circulating t cells, b cells , natural killer (nk) cells, severely reduced naive t cells , hypergammaglobulinemia.








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