Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. Issue 6 (6th September 2018) - Law‐Ping‐Man, Sarah
Abstract: Transporter associated with antigen processing (TAP) is essential for the stabilization and surface expression of major histocompatibility complex class I molecules of all nucleated cells. TAP deficiency syndrome, also known as bare lymphocyte syndrome type I, is a rare primary immunodeficiency disorder. We report a case of TAP1 deficiency revealed by skin lesions long before the occurrence of respiratory infectious manifestations.