Searchable abstracts of presentations at key conferences in endocrinology

ea0086p154 | Adrenal and Cardiovascular | SFEBES2022

HLA-DRB1*0404 is associated with the deletion of the 21-hydroxylase pseudogene in AAD patients

Mavridou Maria , Mitchell Anna , Allinson Kath , Lane Laura , Pearce Simon

Background: HLA-DRB1*04 is one of the MHC alleles which is associated with several autoimmune endocrinopathies, including autoimmune Addison’s disease (AAD). The two versions of the gene which encodes the main target of the autoimmune attack in AAD, steroid 21-hydroxylase, are encoded in a gene cluster, called RCCX module, which is a copy number variation located in the MHC class III locus. Previous data from our group showed that AAD patients are more likely to have no c...