HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.
J Clin Invest
; 103(5): R9-R13, 1999 Mar.
Article
in En
| MEDLINE
| ID: mdl-10074495
ABSTRACT
The transporter associated with antigen processing (TAP), which is composed of two subunits (TAP1 and TAP2) that have different biochemical and functional properties, plays a key role in peptide loading and the cell surface expression of HLA class I molecules. Three cases of HLA class I deficiency have previously been shown to result from the absence of a functional TAP2 subunit. In the present study, we analyzed two cases displaying not only the typical lung syndrome of HLA class I deficiency but also skin lesions, and found these patients to be TAP1-deficient. This defect leads to unstable HLA class I molecules and their retention in the endoplasmic reticulum. However, the absence of TAP1 is compatible with life and does not seem to result in higher susceptibility to viral infections than TAP2 deficiency. This work also reveals that vasculitis is often observed in HLA class I-deficient patients.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Histocompatibility Antigens Class I
/
ATP-Binding Cassette Transporters
/
Mutation
Limits:
Humans
Language:
En
Journal:
J Clin Invest
Year:
1999
Document type:
Article