Chronic granulomatous skin lesions leading to a diagnosis of  TAP 1 deficiency syndrome | Zendy

LawPingMan Sarah | Zendy; Toutain Fabienne | Zendy; RieuxLaucat Frédéric | Zendy; Picard Capucine | Zendy; KammererJacquet Solène | Zendy; MagérusChatinet Aude | Zendy; Dupuy Alain | Zendy; Adamski Henri | Zendy

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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.

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