A multi-hit hypothesis of bullous pemphigoid and associated neurological disease: Is HLA-DQB1*03:01, a potential link between immune privileged antigen exposure and epitope spreading?

HLA. 2017 Mar;89(3):127-134. doi: 10.1111/tan.12960. Epub 2017 Jan 19.

Abstract

Bullous pemphigoid (BP) is the most common autoimmune blistering disease and is linked to IgG recognition of 2 hemidesmosomal antigens, that is, BP230 (BP antigen 1) and BP180 (BP antigen 2, collagen XVII). The association of BP with other systemic diseases, particularly neurocognitive diseases, provides a potential clue in the underlying pathogenesis of BP. The role of HLA-DQB1*03:01 binding to the immunogenic portion of BP180 provides a potential mechanism by which exposure to neuronal collagen BP180 may lead to cutaneous disease. In our proposed multi-hit hypothesis, patients with underlying neuronal disease are exposed to previously sequestered self-antigen, most importantly BP180. Patients with the HLA-DQB1*03:01 allele show an increased T-cell avidity to several epitopes of BP180, particularly the BP180-NC16a domain. Thus, they have a genetic susceptibility to developing BP upon exposure to the target antigen. In a patient with dysregulation of Th1/Th2 balance, anergy is lost and T-cells are subsequently primed resulting in the development of functional autoimmunity against the BP180-NC16a domain leading to clinically overt disease.

Keywords: HLA; bullous pemphigoid; epitope spreading; immunobullous disease.

Publication types

  • Review
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies / biosynthesis
  • Autoantibodies / immunology*
  • Autoantigens / genetics
  • Autoantigens / immunology*
  • Collagen Type XVII
  • Dystonin / genetics
  • Dystonin / immunology
  • Epitopes / genetics
  • Epitopes / immunology
  • Gene Expression
  • Genetic Predisposition to Disease
  • HLA-DQ beta-Chains / genetics
  • HLA-DQ beta-Chains / immunology*
  • Histocompatibility Testing
  • Humans
  • Neurodegenerative Diseases / complications
  • Neurodegenerative Diseases / genetics
  • Neurodegenerative Diseases / immunology*
  • Neurodegenerative Diseases / physiopathology
  • Non-Fibrillar Collagens / genetics
  • Non-Fibrillar Collagens / immunology*
  • Pemphigoid, Bullous / complications
  • Pemphigoid, Bullous / genetics
  • Pemphigoid, Bullous / immunology*
  • Pemphigoid, Bullous / physiopathology
  • T-Lymphocytes / immunology
  • T-Lymphocytes / pathology

Substances

  • Autoantibodies
  • Autoantigens
  • DST protein, human
  • Dystonin
  • Epitopes
  • HLA-DQ beta-Chains
  • HLA-DQB1 antigen
  • Non-Fibrillar Collagens