Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndrome

Pediatr Dermatol. 2018 Nov;35(6):e375-e377. doi: 10.1111/pde.13676. Epub 2018 Sep 6.

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.

Publication types

  • Case Reports

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 2 / genetics*
  • Child, Preschool
  • Female
  • Granuloma / pathology*
  • Histocompatibility Antigens Class I
  • Humans
  • Mutation
  • Severe Combined Immunodeficiency / diagnosis*
  • Skin / pathology
  • Skin Diseases / etiology*

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 2
  • Histocompatibility Antigens Class I
  • TAP1 protein, human

Supplementary concepts

  • Bare Lymphocyte Syndrome, Type I