| Literature DB >> 30189467 |
Sarah Law-Ping-Man1, Fabienne Toutain2, Frédéric Rieux-Laucat3,4, Capucine Picard4,5, Solène Kammerer-Jacquet6, Aude Magérus-Chatinet3,4, Alain Dupuy1, Henri Adamski1.
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.Entities:
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Year: 2018 PMID： 30189467 DOI： 10.1111/pde.13676
Source DB: PubMed Journal: Pediatr Dermatol ISSN： 0736-8046 Impact factor: 1.588