beta(2)-Microglobulin deficiency causes a complex immunodeficiency of the innate and adaptive immune system
Articles > Article · 2015
Authors: Fatma Ömür ARDENİZ, Susanne unger, HÜSEYİN ONAY, Sandra ammann, Caroline keck, Corina cianga, Bengu GERCEKER, Bianca MARTIN, Ilka FUCHS, Ulrich SALZER, Aydan Ikinciogullari, Deniz Guloglu, Tugrul DERELI, Robert THIMME, Stephan EHL, Klaus Schwarz, Annette SCHMITT-GRAEFF, Petru CIANGA, Paul FISCH, Klaus WARNATZ
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, Journal Indexed in SCI Expanded, International, 2015, vol 136, pp 392-401
DOI: 10.1016/j.jaci.2014.12.1937
Summary
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.