Literature DB >> 18330725

Immune deficiency disorders with autoimmunity and abnormalities in immune regulation-monogenic autoimmune diseases.

Heather K Lehman1, Mark Ballow.   

Abstract

Autoimmunity is frequently observed in patients with primary immune deficiency disorders. Monogenic autoimmune diseases include a group of disorders with characteristic autoimmunity and immune deficiency for which single gene defects have been identified. Currently recognized monogenic autoimmune diseases include autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, immunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndrome, autoimmune lymphoproliferative syndrome, and interleukin-2 receptor alpha-chain deficiency. These diseases offer important insights into the mechanisms of central and peripheral immune tolerance and the pathogenesis of defects in these mechanisms.

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Year:  2008        PMID： 18330725     DOI： 10.1007/s12016-007-8038-x

Source DB:  PubMed          Journal:  Clin Rev Allergy Immunol        ISSN： 1080-0549            Impact factor:   8.667


  54 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.  FADD, a novel death domain-containing protein, interacts with the death domain of Fas and initiates apoptosis.

Authors:  A M Chinnaiyan; K O'Rourke; M Tewari; V M Dixit
Journal:  Cell       Date:  1995-05-19       Impact factor: 41.582

4.  Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.

Authors:  Jaakko Perheentupa
Journal:  J Clin Endocrinol Metab       Date:  2006-05-09       Impact factor: 5.958

5.  Chronic lymphadenopathy simulating malignant lymphoma.

Authors:  V C Canale; C H Smith
Journal:  J Pediatr       Date:  1967-06       Impact factor: 4.406

6.  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

7.  Positional cloning of the APECED gene.

Authors:  K Nagamine; P Peterson; H S Scott; J Kudoh; S Minoshima; M Heino; K J Krohn; M D Lalioti; P E Mullis; S E Antonarakis; K Kawasaki; S Asakawa; F Ito; N Shimizu
Journal:  Nat Genet       Date:  1997-12       Impact factor: 38.330

Review 8.  Clinical and molecular features of the immunodysregulation, polyendocrinopathy, enteropathy, X linked (IPEX) syndrome.

Authors:  R S Wildin; S Smyk-Pearson; A H Filipovich
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

Review 9.  Fas and Fas ligand: lpr and gld mutations.

Authors:  S Nagata; T Suda
Journal:  Immunol Today       Date:  1995-01

10.  X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy.

Authors:  R S Wildin; F Ramsdell; J Peake; F Faravelli; J L Casanova; N Buist; E Levy-Lahad; M Mazzella; O Goulet; L Perroni; F D Bricarelli; G Byrne; M McEuen; S Proll; M Appleby; M E Brunkow
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330
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  3 in total

1.  Antagonistic effects of acetylshikonin on LPS-induced NO and PGE2 production in BV2 microglial cells via inhibition of ROS/PI3K/Akt-mediated NF-κB signaling and activation of Nrf2-dependent HO-1.

Authors:  Rajapaksha Gedara Prasad Tharanga Jayasooriya; Kyoung-Tae Lee; Yung Hyun Choi; Sung-Kwon Moon; Wun-Jae Kim; Gi-Young Kim
Journal:  In Vitro Cell Dev Biol Anim       Date:  2015-06-20       Impact factor: 2.416

Review 2.  Autoimmunity in immunodeficiency.

Authors:  Krista Todoric; Jessica B Koontz; Daniel Mattox; Teresa K Tarrant
Journal:  Curr Allergy Asthma Rep       Date:  2013-08       Impact factor: 4.806

3.  Rituximab resistant evans syndrome and autoimmunity in Schimke immuno-osseous dysplasia.

Authors:  Jakub Zieg; Anna Krepelova; Alireza Baradaran-Heravi; Elena Levtchenko; Encarna Guillén-Navarro; Miroslava Balascakova; Martina Sukova; Tomas Seeman; Jiri Dusek; Nadezda Simankova; Tomas Rosik; Sylva Skalova; Jan Lebl; Cornelius F Boerkoel
Journal:  Pediatr Rheumatol Online J       Date:  2011-09-13       Impact factor: 3.054
  3 in total

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