Peripherin-IgG association with neurologic and endocrine autoimmunity

J Autoimmun. 2010 Jun;34(4):469-77. doi: 10.1016/j.jaut.2009.12.004. Epub 2010 Jan 12.

Abstract

Peripherin-IgG has been reported a pertinent autoantibody in non-obese type 1 diabetic (NOD) mice. However, it has not previously been recognized in any human disease. In blinded evaluation of serum for markers of neurological autoimmunity in a high-volume diagnostic laboratory, we incidentally identified 26 patients (61% female) with an IgG that bound selectively to neural elements in enteric ganglia, sympathetic nerve trunks and discrete nerve tracts in mid-brain and hind-brain. The target antigen was identified as peripherin, a 55kDa - type III intermediate filament protein. Review of clinical histories revealed that 54% of seropositive patients had dysautonomia (predominantly gastrointestinal dysmotility), 30% had neuropathies with varied sensory symptoms and 35% had clinical or serological evidence of endocrinopathy (type 1 diabetes, thyroiditis or premature ovarian failure). Collectively, 73% had autonomic dysfunction or endocrinopathy. None of 173 healthy subjects was seropositive. Subsequent western blot evaluation of archival sera from patients with small fiber/autonomic neuropathies (with or without endocrinopathy) revealed a 33% seropositivity rate for peripherin-IgG. Our further demonstration that peripherin-immunoreactive autonomic fibers in pancreas, thyroid and ovary are juxtaposed to endocrine epithelium, complement our clinical observations in suggesting that neuronal elements may be a pertinent initial target for immune attack in multiple forms of endocrine autoimmunity (intermolecular epitope spreading). It remains to be determined whether or not peripherin-IgG is predictive for development of small fiber neuropathy (autonomic or somatic).

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Aged, 80 and over
  • Animals
  • Autoantibodies
  • Autoantigens
  • Autoimmunity
  • Biomarkers / blood
  • Endocrine System / immunology*
  • Female
  • Guillain-Barre Syndrome
  • Humans
  • Immunoglobulin G / blood
  • Immunoglobulin G / immunology*
  • Intermediate Filament Proteins / blood
  • Intermediate Filament Proteins / immunology*
  • Male
  • Membrane Glycoproteins / blood
  • Membrane Glycoproteins / immunology*
  • Mice
  • Mice, Inbred NOD
  • Middle Aged
  • Nerve Tissue Proteins / blood
  • Nerve Tissue Proteins / immunology*
  • Neuroimmunomodulation / immunology*
  • Peripherins
  • Primary Dysautonomias
  • Rats

Substances

  • Autoantibodies
  • Autoantigens
  • Biomarkers
  • Immunoglobulin G
  • Intermediate Filament Proteins
  • Membrane Glycoproteins
  • Nerve Tissue Proteins
  • PRPH protein, human
  • Peripherins