JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY, cilt.136, ss.392-401, 2015 (SCI İndekslerine Giren Dergi)
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.