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Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome.
Law-Ping-Man, Sarah; Toutain, Fabienne; Rieux-Laucat, Frédéric; Picard, Capucine; Kammerer-Jacquet, Solène; Magérus-Chatinet, Aude; Dupuy, Alain; Adamski, Henri.
Afiliación
  • Law-Ping-Man S; Department of Dermatology, Rennes University Hospital, Rennes, France.
  • Toutain F; Department of Pediatrics, Hopital Sud, Rennes, France.
  • Rieux-Laucat F; Laboratory of The Immunogenetics of Pediatric Autoimmune Diseases, INSERM, UMR 1163, Paris, France.
  • Picard C; Imagine Institute, Paris Descartes -Sorbonne Paris Cité University, Paris, France.
  • Kammerer-Jacquet S; Imagine Institute, Paris Descartes -Sorbonne Paris Cité University, Paris, France.
  • Magérus-Chatinet A; Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, APHP, Paris, France.
  • Dupuy A; Department of Pathology, Rennes University Hospital, Rennes, France.
  • Adamski H; Laboratory of The Immunogenetics of Pediatric Autoimmune Diseases, INSERM, UMR 1163, Paris, France.
Pediatr Dermatol ; 35(6): e375-e377, 2018 Nov.
Article en En | MEDLINE | ID: mdl-30189467
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.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inmunodeficiencia Combinada Grave / Transportador de Casetes de Unión a ATP, Subfamilia B, Miembro 2 / Granuloma Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Pediatr Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Francia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Enfermedades de la Piel / Inmunodeficiencia Combinada Grave / Transportador de Casetes de Unión a ATP, Subfamilia B, Miembro 2 / Granuloma Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Female / Humans Idioma: En Revista: Pediatr Dermatol Año: 2018 Tipo del documento: Article País de afiliación: Francia