Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children Public Deposited

Downloadable Content

Download PDF
Creator
  • Aversa, Tommaso
    • Other Affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy
  • Su, Maureen
    • Affiliation: School of Medicine, Department of Microbiology and Immunology
  • Valenzise, Mariella
    • Other Affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy
  • De Luca, Filippo
    • Other Affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy
  • Salzano, Giuseppina
    • Other Affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy
  • Zirilli, Giuseppina
    • Other Affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy
Abstract
  • Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy (APECED) is a rare primary immunodeficiency disorder typically caused by homozygous AIRE gene mutation. It is characterized by the association of multiple autoimmune diseases, with a classical triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years with the apparence of new entities. One of these novel manifestations is the chronic inflammatory demyelinating polineuropathy (CIDP), that is characterized by involvement of peripheral nervous system, with nerve demyelination, progressive muscular weakness of both arms and legs and sensory loss. The identification of myelin protein zero as an important autoantigen (Ag) in CIDP may suggest the development of Ag-based therapies, such as Ag-specific DNA vaccination or infusion of Ag-coupled cells.
Date of publication
Identifier
  • doi:10.1186/s13052-017-0331-6
Resource type
  • Journal Item
Rights statement
  • In Copyright
Rights holder
  • The Author(s).
Language
  • English
Bibliographic citation
  • Italian Journal of Pediatrics. 2017 Jan 19;43(1):11
Publisher
  • BioMed Central
Parents:

This work has no parents.

Items