Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome. Issue 6 (6th September 2018)

• Record Type: Journal Article
• Authors: Law‐Ping‐Man, Sarah; Toutain, Fabienne; Rieux‐Laucat, Frédéric; Picard, Capucine; Kammerer‐Jacquet, Solène; Magérus‐Chatinet, Aude; Dupuy, Alain; Adamski, Henri
• Is Part Of: Pediatric dermatology. Volume 35:Issue 6(2018)
• Page Start: e375
• Page End: e377
• Publication Date: 2018-09-06
• Subjects: Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13676
• Languages: English
• ISSNs: 0736-8046

Abstract

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.