title: [Type 1 polyglandular autoimmune syndrome associated with C322fsx372 mutation].
abstract: Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the characteristic manifestations are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenal insufficiency. A case is presented of a patient with typical clinical sequence, along with other changes, and in whom a mutation in homozygosis, C322fsX372, was detected after performing a molecular analysis of autoimmunity regulator gene (AIRE). Inheritance is autosomal recessive, associated with mutations in the AIRE gene, which encodes a protein involved in autoimmunity and immunodeficiency. For diagnosis, At least two of the three major clinical manifestations are required for a diagnosis. However, only one of them is necessary in the study of relatives of affected patients. These syndromes must be diagnosed early, given their high morbidity and mortality. Every manifestation needs to be treated, in order to maintain the quality of life.
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España. Electronic address: Pilar.roncales@gmail.com.
authors.forename: P
authors.initials: P
authors.lastname: Roncalés-Samanes
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: A
authors.initials: A
authors.lastname: de Arriba Muñoz
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: G M
authors.initials: GM
authors.lastname: Lou Francés
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: M
authors.initials: M
authors.lastname: Ferrer Lozano
authors.affiliation: Unidad de Nefrología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: M L
authors.initials: ML
authors.lastname: Justa Roldán
authors.affiliation: Unidad de Endocrinología Pediátrica, Hospital Universitario Miguel Servet, Zaragoza, España.
authors.forename: J I
authors.initials: JI
authors.lastname: Labarta Aizpun
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D009154:Mutation; D010641:Phenotype; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*
keywords: Adrenal insufficiency; Candidiasis; Estudio genético; Genetic study; Hipoparatiroidismo; Hypoparathyroidism; Insuficiencia suprarrenal; Polyglandular autoimmune syndrome; Síndrome poliglandular autoinmune