title: Novel insight into Chronic Inflammatory Demyelinating Polineuropathy in APECED syndrome: molecular mechanisms and clinical implications in children.
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.
authors.affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy. mvalenzise@unime.it.
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy.
authors.forename: Tommaso
authors.initials: T
authors.lastname: Aversa
authors.affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Salzano
authors.affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Zirilli
authors.affiliation: Department of Human Pathology of Adulthood and Childhood, University of Messina, Via Consolare Valeria-98125, Messina, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: De Luca
authors.affiliation: Department of Microbiology and Immunology- UNC Hospitals Children's Specialty Clinic- Chapel Hill, Chapel Hill, NC, USA.
authors.forename: Maureen
authors.initials: M
authors.lastname: Su
mesh_terms: D001402:B-Lymphocytes / Q000276:immunology; D002648:Child; D002908:Chronic Disease; D004247:DNA / Q000235:genetics*; D006801:Humans; D007111:Immunity, Cellular; D009154:Mutation; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics / Q000276:immunology / Q000378:metabolism; D013601:T-Lymphocytes / Q000276:immunology; D014157:Transcription Factors / Q000235:genetics* / Q000378:metabolism; D000096927:AIRE Protein
chemical_list: D004247:DNA; D014157:Transcription Factors; D000096927:AIRE Protein
keywords: AIRE gene; Autoimmune polyendocrinopathy-candidiasis-ectodermal-dystrophy; Molecular pathophysiology; Peripheral neuropathy; Specific therapies