Premium
Chronic granulomatous skin lesions leading to a diagnosis of TAP 1 deficiency syndrome
Author(s) -
LawPingMan Sarah,
Toutain Fabienne,
RieuxLaucat Frédéric,
Picard Capucine,
KammererJacquet Solène,
MagérusChatinet Aude,
Dupuy Alain,
Adamski Henri
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13676
Subject(s) - medicine , immunology , primary immunodeficiency , major histocompatibility complex , immunodeficiency , antigen , immune system
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 TAP 1 deficiency revealed by skin lesions long before the occurrence of respiratory infectious manifestations.