Novel Mutation of the Aire Gene in Iranian Patients with Autoimmune Polyglandular Syndrome Type I

被引:0
|
作者
Vakili, Rahim [1 ]
Abbszadegan, Mohhamad Reza [1 ]
Ghaemi, Nosrat [1 ]
Manshadi, Seid Hosean Dehghan [1 ]
Ghahraman, Marta [1 ]
机构
[1] Mashhad Univ Med Sci, Mashhad, Iran
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
SAT-1004
引用
收藏
页数:2
相关论文
共 50 条
  • [1] A Novel Homozygous Mutation of AIRE Gene in a Patient With Autoimmune Polyglandular Syndrome Type I
    Tautiva-Rojas, Camila M.
    Bogarin-Solano, Roberto
    Santamaria-Quesada, Carlos
    Munoz, Mariana Pacheco
    CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (02)
  • [2] Polyglandular autoimmune syndrome type I - a novel AIRE mutation in a North American patient
    Huibregtse, Kelly Egan
    Wolfgram, Peter
    Winer, Karen K.
    Connor, Ellen L.
    JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2014, 27 (11-12): : 1257 - 1260
  • [3] A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
    Susana Vitozzi
    Silvia Graciela Correa
    Alejandro Lozano
    Eduardo Jorge Fernández
    Rodrigo Quiroga
    Immunogenetics, 2024, 76 : 69 - 74
  • [4] A novel missense mutation in the AIRE gene underlying autoimmune polyglandular syndrome type 1
    Vitozzi, Susana
    Correa, Silvia Graciela
    Lozano, Alejandro
    Fernandez, Eduardo Jorge
    Quiroga, Rodrigo
    IMMUNOGENETICS, 2024, 76 (01) : 69 - 74
  • [5] A novel mutation of AIRE gene in a patient with Autoimmune Polyglandular Syndrome type I (APS1), a case report
    Tautiva-Rojas, Maria-Camila
    Pacheco, Mariana
    Santamaria-Quesada, Carlos
    Bogarin-Solano, Roberto
    HORMONE RESEARCH IN PAEDIATRICS, 2022, 95 (SUPPL 2): : 535 - 535
  • [6] A NOVEL MUTATION IN THE AUTOIMMUNE REGULATOR GENE IS ASSOCIATED WITH AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE-I
    Schwartz, J.
    Fulkerson, P.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2016, 117 (05) : S73 - S73
  • [7] Novel mutation of the autoimmune regulator (AIRE) gene in an Argentine patient with autoimmune polyglandular syndrome type 1 (APS1)
    Bazzara, Leonardo
    Munoz, Liliana
    Nievas, Valeria
    Castro, Laura
    Ayan, Diana
    Paez, Alejandra
    Inchaurregui, Elida
    Khon, Joaquin
    Nunez, Mary
    Miras, Mirta
    HORMONE RESEARCH, 2008, 70 : 183 - 183
  • [8] VARIABLE EXPRESSION OF THE AIRE GENE IN AUTOIMMUNE POLYGLANDULAR SYNDROME TYPE 1
    Garcia, A.
    Graneiro, A.
    Granados, A.
    Hernandez-Trujillo, V.
    Calderon, J.
    ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY, 2023, 131 (05) : S152 - S153
  • [9] Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation
    Eduarda Resende
    Gemma Novoa Gómez
    Marta Nascimento
    Lourdes Loidi
    Rebeca Saborido Fiaño
    Paloma Cabanas Rodríguez
    Lidia Castro-Feijoo
    Jesús Barreiro Conde
    Hormones, 2015, 14 (2) : 312 - 316
  • [10] Precocious presentation of autoimmune polyglandular syndrome type 2 associated with an AIRE mutation
    Resende, Eduarda
    Gomez, Gemma Novoa
    Nascimento, Marta
    Loidi, Lourdes
    Fiano, Rebeca Saborido
    Rodriguez, Paloma Cabanas
    Castro-Feijoo, Lidia
    Conde, Jesus Barreiro
    HORMONES-INTERNATIONAL JOURNAL OF ENDOCRINOLOGY AND METABOLISM, 2015, 14 (02): : 312 - 316