title: APECED syndrome in childhood: clinical spectrum is enlarging.
abstract: Autoimmune polyendocrinopathy-candidiasis-ectodermal-distrophy (APECED) is a rare autosomal recessive disease, which is mainly characterized by the association of many autoimmune diseases, with a classic triad including chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical failure. Its clinical spectrum has significantly enlarged in the last years and other non-classic components have been recently described. Aim of this review was to alert pediatricians to these novel clinical aspects of this syndrome, that have been recently included among the autoimmune APECED manifestations: a) chronic lung disease, that may evolve to cor pulmonale and terminal respiratory failure; b) chronic inflammatory demyelinating polineuropathy, with progressive muscular weakness of both arms and legs and sensory loss; c) gastrointestinal dysfunction, with recurrent diarrhea, malabsorption and steatorrhea or chronic constipation. For each of these novel components of APECED, specific autoantibodies against either lung autoantigens or peripheral nerves or tryptophan hydroxylase have been just recently identified.
authors.affiliation: Unit of Pediatrics, Department of Pediatric Sciences, University of Messina, Messina, Italy - marielvale@hotmail.com.
authors.forename: Mariella
authors.initials: M
authors.lastname: Valenzise
authors.forename: Luca
authors.initials: L
authors.lastname: Alessi
authors.forename: Enrico
authors.initials: E
authors.lastname: Bruno
authors.forename: Valeria
authors.initials: V
authors.lastname: Cama
authors.forename: Daria
authors.initials: D
authors.lastname: Costanzo
authors.forename: Cristina
authors.initials: C
authors.lastname: Genovese
authors.forename: Cristina
authors.initials: C
authors.lastname: Mignosa
authors.forename: Veronica
authors.initials: V
authors.lastname: Scuderi
authors.forename: Filippo
authors.initials: F
authors.lastname: DE Luca
mesh_terms: D001323:Autoantibodies / Q000276:immunology*; D005767:Gastrointestinal Diseases / Q000209:etiology / Q000276:immunology; D006801:Humans; D008171:Lung Diseases / Q000209:etiology / Q000276:immunology; D018908:Muscle Weakness / Q000209:etiology / Q000276:immunology; D016884:Polyendocrinopathies, Autoimmune / Q000276:immunology / Q000503:physiopathology*; D011115:Polyneuropathies / Q000209:etiology / Q000276:immunology
chemical_list: D001323:Autoantibodies