Novel mutation in AIRE gene with autoimmune polyendocrine syndrome type 1.

Fardi Golyan, Fatemeh; Ghaemi, Nosrat; Abbaszadegan, Mohammad Reza; Dehghan Manshadi, Seyed Hossein; Vakili, Rahim; Druley, Todd E; Rahimi, Hamid Reza; Ghahraman, Martha

Fardi Golyan, Fatemeh; Ghaemi, Nosrat; Abbaszadegan, Mohammad Reza; Dehghan Manshadi, Seyed Hossein; Vakili, Rahim; Druley, Todd E; Rahimi, Hamid Reza; Ghahraman, Martha.

Afiliación

Fardi Golyan F; Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Ghaemi N; Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Abbaszadegan MR; Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Dehghan Manshadi SH; Pediatric Endocrinology Aja University of Medical Sciences, Tehran, Iran.
Vakili R; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Druley TE; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Rahimi HR; Department of Modern Sciences & technologies, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Ghahraman M; Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran. Electronic address: marthaghahraman@gmail.com.

Immunobiology ; 224(6): 728-733, 2019 11.

Article en En | MEDLINE | ID: mdl-31526676

RESUMEN

PURPOSE: Autoimmune polyendocrine type 1 (APS-1) is a complex inherited autosomal recessive disorder. Classically, it appears within the first decade of life followed by adrenocortical insufficiency, mucocutaneous candidiasis, Addison's disease, and hypoparathyroidism. The clinical phenotype of APS-1 varies depending upon mutations in the autoimmune regulator gene (AIRE) on chromosome 21q22.3. METHODS: In this study, we performed Sanger sequencing ofAIRE in Iranian patients to identify different variants and probable new mutations corresponding to a clinical diagnosis of APS-1. RESULTS: After analyzing 14AIRE exons, we detected a novel insertion mutation in exon 2 in a patient who presented with severe APS-1, Lys50AsnfsX168. Furthermore, the known mutations in AIRE, including Arg139X, Arg257X, and Leu323SerfsX51, were detected in enrolled patients. DISCUSSION: According to our results, sequencing analysis ofAIRE provides a useful screening method to diagnose patients with incomplete or unusual clinical presentations of APS-1.

Asunto(s)

Poliendocrinopatías Autoinmunes/genética; Factores de Transcripción/genética; Adolescente; Insuficiencia Suprarrenal/genética; Adulto; Alopecia/genética; Candidiasis Mucocutánea Crónica/genética; Niño; Hipoplasia del Esmalte Dental/genética; Exones; Femenino; Humanos; Hipoparatiroidismo/genética; Irán; Queratoconjuntivitis/genética; Síndromes de Malabsorción/genética; Masculino; Mutación; Enfermedades de la Uña/genética; Adulto Joven; Proteína AIRE

Palabras clave

AIRE gene; APECED; APS-1; Gene mutation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factores de Transcripción / Poliendocrinopatías Autoinmunes Tipo de estudio: Prognostic_studies Límite: Adolescent / Adult / Child / Female / Humans / Male País/Región como asunto: Asia Idioma: En Revista: Immunobiology Año: 2019 Tipo del documento: Article País de afiliación: Irán Pais de publicación: Países Bajos

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