beta(2)-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system


Ardeniz O. , unger S., ONAY H. , ammann S., keck C., cianga C., ...More

JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, vol.136, no.2, pp.392-401, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 136 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1016/j.jaci.2014.12.1937
  • Title of Journal : JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
  • Page Numbers: pp.392-401

Abstract

Background: Most patients with MHC class I (MHC-I) deficiency carry genetic defects in transporter associated with antigen processing 1 (TAP1) or TAP2. The clinical presentation can vary, and about half of the patients have severe skin disease. Previously, one report described beta(2)-microglobulin (beta(2)m) deficiency as another monogenetic cause of MHC-I deficiency, but no further immunologic evaluation was performed.