Literature DB >> 26141571

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy.

Kai Kisand1, Pärt Peterson.   

Abstract

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is an autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. This review focuses on the clinical and immunological features of APECED, summarizes the current knowledge on the function of AIRE and discusses the importance of autoantibodies in disease diagnosis and prognosis. Additionally, we review the outcome of recent immunomodulatory treatments in APECED patients.

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Year:  2015        PMID： 26141571     DOI： 10.1007/s10875-015-0176-y

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


  157 in total

1.  Autoimmune regulator is expressed in the cells regulating immune tolerance in thymus medulla.

Authors:  M Heino; P Peterson; J Kudoh; K Nagamine; A Lagerstedt; V Ovod; A Ranki; I Rantala; M Nieminen; J Tuukkanen; H S Scott; S E Antonarakis; N Shimizu; K Krohn
Journal:  Biochem Biophys Res Commun       Date:  1999-04-21       Impact factor: 3.575

2.  Prevalence and clinical associations of 10 defined autoantibodies in autoimmune polyendocrine syndrome type I.

Authors:  Annika Söderbergh; Anne Grethe Myhre; Olov Ekwall; Gennet Gebre-Medhin; Håkan Hedstrand; Eva Landgren; Aaro Miettinen; Petra Eskelin; Maria Halonen; Tiinamaija Tuomi; Jan Gustafsson; Eystein S Husebye; Jaakko Perheentupa; Mikhail Gylling; Michael P Manns; Fredrik Rorsman; Olle Kämpe; Thomas Nilsson
Journal:  J Clin Endocrinol Metab       Date:  2004-02       Impact factor: 5.958

3.  Aire's partners in the molecular control of immunological tolerance.

Authors:  Jakub Abramson; Matthieu Giraud; Christophe Benoist; Diane Mathis
Journal:  Cell       Date:  2010-01-08       Impact factor: 41.582

Review 4.  Clinical review 93: Autoimmune polyglandular syndrome type 1.

Authors:  C Betterle; N A Greggio; M Volpato
Journal:  J Clin Endocrinol Metab       Date:  1998-04       Impact factor: 5.958

5.  ss-cell autoantibodies, human leukocyte antigen II alleles, and type 1 diabetes in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Authors:  M Gylling; T Tuomi; P Björses; S Kontiainen; J Partanen; M R Christie; M Knip; J Perheentupa; A Miettinen
Journal:  J Clin Endocrinol Metab       Date:  2000-12       Impact factor: 5.958

Review 6.  Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22.

Authors:  Gregory F Sonnenberg; Lynette A Fouser; David Artis
Journal:  Nat Immunol       Date:  2011-05       Impact factor: 25.606

7.  Gastrointestinal Autoimmunity Associated With Loss of Central Tolerance to Enteric α-Defensins.

Authors:  Jan Dobeš; Aleš Neuwirth; Martina Dobešová; Matouš Vobořil; Jana Balounová; Ondřej Ballek; Jan Lebl; Antonella Meloni; Kai Krohn; Nicolas Kluger; Annamari Ranki; Dominik Filipp
Journal:  Gastroenterology       Date:  2015-05-15       Impact factor: 22.682

8.  Two different cytochrome P450 enzymes are the adrenal antigens in autoimmune polyendocrine syndrome type I and Addison's disease.

Authors:  O Winqvist; J Gustafsson; F Rorsman; F A Karlsson; O Kämpe
Journal:  J Clin Invest       Date:  1993-11       Impact factor: 14.808

9.  Tryptophan hydroxylase autoantibodies as markers of a distinct autoimmune gastrointestinal component of autoimmune polyendocrine syndrome type 1.

Authors:  R Scarpa; R Alaggio; L Norberto; J Furmaniak; S Chen; B Rees Smith; S Masiero; L Morlin; M Plebani; F De Luca; M C Salerno; R Giordano; G Radetti; L Ghizzoni; G Tonini; F Farinati; C Betterle
Journal:  J Clin Endocrinol Metab       Date:  2013-01-30       Impact factor: 5.958

10.  Autoimmune polyendocrine syndrome type 1 and NALP5, a parathyroid autoantigen.

Authors:  Mohammad Alimohammadi; Peyman Björklund; Asa Hallgren; Nora Pöntynen; Gabor Szinnai; Noriko Shikama; Marcel P Keller; Olov Ekwall; Sarah A Kinkel; Eystein S Husebye; Jan Gustafsson; Fredrik Rorsman; Leena Peltonen; Corrado Betterle; Jaakko Perheentupa; Göran Akerström; Gunnar Westin; Hamish S Scott; Georg A Holländer; Olle Kämpe
Journal:  N Engl J Med       Date:  2008-03-06       Impact factor: 91.245
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  30 in total

Review 1.  Lessons from primary immunodeficiencies: Autoimmune regulator and autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Authors:  Gregory M Constantine; Michail S Lionakis
Journal:  Immunol Rev       Date:  2019-01       Impact factor: 12.988

2.  Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Authors:  Elise M N Ferre; Stacey R Rose; Sergio D Rosenzweig; Peter D Burbelo; Kimberly R Romito; Julie E Niemela; Lindsey B Rosen; Timothy J Break; Wenjuan Gu; Sally Hunsberger; Sarah K Browne; Amy P Hsu; Shakuntala Rampertaap; Muthulekha Swamydas; Amanda L Collar; Heidi H Kong; Chyi-Chia Richard Lee; David Chascsa; Thomas Simcox; Angela Pham; Anamaria Bondici; Mukil Natarajan; Joseph Monsale; David E Kleiner; Martha Quezado; Ilias Alevizos; Niki M Moutsopoulos; Lynne Yockey; Cathleen Frein; Ariane Soldatos; Katherine R Calvo; Jennifer Adjemian; Morgan N Similuk; David M Lang; Kelly D Stone; Gulbu Uzel; Jeffrey B Kopp; Rachel J Bishop; Steven M Holland; Kenneth N Olivier; Thomas A Fleisher; Theo Heller; Karen K Winer; Michail S Lionakis
Journal:  JCI Insight       Date:  2016-08-18

3.  Aire Inhibits the Generation of a Perinatal Population of Interleukin-17A-Producing γδ T Cells to Promote Immunologic Tolerance.

Authors:  Noriyuki Fujikado; Alexander O Mann; Kushagra Bansal; Kimberly R Romito; Elise M N Ferre; Sergio D Rosenzweig; Michail S Lionakis; Christophe Benoist; Diane Mathis
Journal:  Immunity       Date:  2016-11-15       Impact factor: 31.745

4.  DNA breaks and chromatin structural changes enhance the transcription of autoimmune regulator target genes.

Authors:  Mithu Guha; Mario Saare; Julia Maslovskaja; Kai Kisand; Ingrid Liiv; Uku Haljasorg; Tõnis Tasa; Andres Metspalu; Lili Milani; Pärt Peterson
Journal:  J Biol Chem       Date:  2017-02-27       Impact factor: 5.157

Review 5.  Polyglandular autoimmune syndromes.

Authors:  G J Kahaly; L Frommer
Journal:  J Endocrinol Invest       Date:  2017-08-17       Impact factor: 4.256

6.  The plethora, clinical manifestations and treatment options of autoimmunity in patients with primary immunodeficiency.

Authors:  Hatice Ezgi Barış; Ayça Kıykım; Ercan Nain; Ahmet Oğuzhan Özen; Elif Karakoç-Aydıner; Safa Barış
Journal:  Turk Pediatri Ars       Date:  2016-12-01

Review 7.  Autoimmunity in Primary Immunodeficiencies (PID).

Authors:  Grace T Padron; Vivian P Hernandez-Trujillo
Journal:  Clin Rev Allergy Immunol       Date:  2022-06-01       Impact factor: 8.667

8.  IL-22 neutralizing autoantibodies impair fungal clearance in murine oropharyngeal candidiasis model.

Authors:  Rudolf Bichele; Jaanika Kärner; Kai Truusalu; Imbi Smidt; Reet Mändar; Heather R Conti; Sarah L Gaffen; Pärt Peterson; Martti Laan; Kai Kisand
Journal:  Eur J Immunol       Date:  2017-12-11       Impact factor: 5.532

Review 9.  Autoimmune enteropathies.

Authors:  Sarah E Umetsu; Ian Brown; Cord Langner; Gregory Y Lauwers
Journal:  Virchows Arch       Date:  2017-10-11       Impact factor: 4.064

10.  Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Authors:  Romain Lévy; Satoshi Okada; Vivien Béziat; Kunihiko Moriya; Caini Liu; Louis Yi Ann Chai; Mélanie Migaud; Fabian Hauck; Amein Al Ali; Cyril Cyrus; Chittibabu Vatte; Turkan Patiroglu; Ekrem Unal; Marie Ferneiny; Nobuyuki Hyakuna; Serdar Nepesov; Matias Oleastro; Aydan Ikinciogullari; Figen Dogu; Takaki Asano; Osamu Ohara; Ling Yun; Erika Della Mina; Didier Bronnimann; Yuval Itan; Florian Gothe; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Natalia Tahuil; Caner Aytekin; Aicha Salhi; Saleh Al Muhsen; Masao Kobayashi; Julie Toubiana; Laurent Abel; Xiaoxia Li; Yildiz Camcioglu; Fatih Celmeli; Christoph Klein; Suzan A AlKhater; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-12-07       Impact factor: 12.779
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