Heterozygous AIRE Mutation in a Family with Multiple Autoimmune Organ Involvement

被引:0
|
作者
Sefer, Asena Pinar [1 ]
Kolukisa, Burcu Kocamis [1 ]
Akcam, Bengu [2 ]
Demirkol, Yasemin Kendir [3 ]
Aydiner, Elif Karakoc [1 ]
Ozen, Ahmet [1 ]
Baris, Safa [4 ]
机构
[1] Marmara Univ Hosp, Dept Pediat Immunol & Allergy, Istanbul, Turkey
[2] Marmara Univ, Pendik Res & Training Hosp, Istanbul, Turkey
[3] Umraniye Res & Training Hosp, Dept Pediat Genet Dis, Istanbul, Turkey
[4] Umraniye Res & Training Hosp, Dept Pediat Immunol & Allergy, Pediat, Istanbul, Turkey
关键词
AIRE; autoimmunity; heterozygous mutation; APDS;
D O I
暂无
中图分类号
R392 [医学免疫学]; Q939.91 [免疫学];
学科分类号
100102 ;
摘要
171
引用
收藏
页码:S102 / S102
页数:1
相关论文
共 50 条
  • [31] Heterozygous mutation of Drosophila Opa1 causes the development of multiple organ abnormalities in an age-dependent and organ-specific manner
    Shahrestani, Parvin
    Leung, Hung-Tat
    Le, Phung Khanh
    Pak, William L.
    Tse, Stephanie
    Ocorr, Karen
    Huang, Taosheng
    MITOCHONDRION, 2010, 10 (02) : 216 - 216
  • [32] Heterozygous Mutation of Drosophila Opa1 Causes the Development of Multiple Organ Abnormalities in an Age-Dependent and Organ-Specific Manner
    Shahrestani, Parvin
    Leung, Hung-Tat
    Le, Phung Khanh
    Pak, William L.
    Tse, Stephanie
    Ocorr, Karen
    Huang, Taosheng
    PLOS ONE, 2009, 4 (08):
  • [33] The role of heterozygous mutations of the autoimmune regulator gene (AIRE) in non-APECED autoimmunity: a comment on recent findings
    Fierabracci, Alessandra
    CLINICAL ENDOCRINOLOGY, 2011, 74 (04) : 532 - 533
  • [34] Multiple Organ Involvement with Hydatid Cysts
    Sabouni, F.
    Ferdosian, F.
    Mamishi, S.
    Nejat, F.
    Monnajemzadeh, M.
    Rezaei, N.
    IRANIAN JOURNAL OF PARASITOLOGY, 2010, 5 (02) : 65 - 70
  • [35] Multiple organ involvement in tuberous sclerosis
    Yagci, C
    SahinAkyar, G
    Akyar, S
    EUROPEAN JOURNAL OF RADIOLOGY, 1997, 25 (01) : 52 - 54
  • [36] Epithelioid hemangioendothelioma with multiple organ involvement
    Celikel, Cigdem
    Yumuk, P. Fulden
    Basaran, Gul
    Yildizeli, Berdrettin
    Kodalli, Nihat
    Ahiskali, Rengin
    APMIS, 2007, 115 (07) : 881 - 888
  • [37] MULTIPLE ORGAN INVOLVEMENT IN PERINATAL ASPHYXIA
    MARTINANCEL, A
    GARCIAALIX, A
    GAYA, F
    CABANAS, F
    BURGUEROS, M
    QUERO, J
    JOURNAL OF PEDIATRICS, 1995, 127 (05): : 786 - 793
  • [38] DOMINANT DISORDERS WITH MULTIPLE ORGAN INVOLVEMENT
    KEGEL, MF
    DERMATOLOGIC CLINICS, 1987, 5 (01) : 205 - 219
  • [39] Renal Sarcoidosis With Multiple Organ Involvement
    Shimizu, Masaru
    Asashima, Hiromitsu
    Terasaki, Mayu
    Toko, Hirofumi
    Honda, Fumika
    Ohyama, Ayako
    Yagishita, Mizuki
    Takahashi, Hiroyuki
    Hagiwara, Shinya
    Kondo, Yuya
    Tsuboi, Hiroto
    Matsumoto, Isao
    Sumida, Takayuki
    JCR-JOURNAL OF CLINICAL RHEUMATOLOGY, 2020, 26 (03) : E55 - E55
  • [40] New Splice Site Acceptor Mutation in AIRE Gene in Autoimmune Polyendocrine Syndrome Type 1
    Mora, Mireia
    Hanzu, Felicia A.
    Pradas-Juni, Marta
    Aranda, Gloria B.
    Halperin, Irene
    Puig-Domingo, Manuel
    Aguilo, Sira
    Fernandez-Rebollo, Eduardo
    PLOS ONE, 2014, 9 (07):