TAP1 deficiency

Patients developed chronic inflammation of the respiratory tract in late childhood and skin lesions at different ages. In one patient the skin lesions were first observed at the age of 8, whereas in the second patient they developed at the age of 21 . TAP1 deficiency is compatible with life. The syndromes associated with TAP1 and TAP2 deficiency are similar and characterized by the development of chronic inflammation of the respiratory tract in late childhood and vasculitis at variable ages. Medical observations suggest that the different biochemical properties of the TAP1 and TAP2 subunits do not result in major differences in the health status of the patients.

Diagnosis

Diagnostic recommendations

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