Literature DB >> 26262888

Novel monogenic diseases causing human autoimmunity.

Isabelle Melki1, Yanick J Crow2.   

Abstract

Fuelled by the on-going sequencing revolution, the last two years have seen a number of exciting discoveries relating to monogenic disorders predisposing to autoimmunity that provide new insights into the function of the human immune system. Here we discuss a selection of these diseases due to mutations in PRKCD, CTLA4, STAT3, IFIH1, TMEM173 and COPA.
Copyright © 2015 Elsevier Ltd. All rights reserved.

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Year:  2015        PMID： 26262888     DOI： 10.1016/j.coi.2015.07.008

Source DB:  PubMed          Journal:  Curr Opin Immunol        ISSN： 0952-7915            Impact factor:   7.486


  8 in total

1.  Autoimmune and Inflammatory Manifestations in 247 Patients with Primary Immunodeficiency-a Report from the Slovenian National Registry.

Authors:  Štefan Blazina; Gašper Markelj; Anja Koren Jeverica; Nataša Toplak; Nevenka Bratanič; Janez Jazbec; Peter Kopač; Maruša Debeljak; Alojz Ihan; Tadej Avčin
Journal:  J Clin Immunol       Date:  2016-08-31       Impact factor: 8.317

Review 2.  [Diffuse alveolar hemorrhage in children].

Authors:  Ting Jiang; Qu-Bei Li
Journal:  Zhongguo Dang Dai Er Ke Za Zhi       Date:  2019-09

Review 3.  Rare phenotypes in the understanding of autoimmunity.

Authors:  Yvonne Zeissig; Britt-Sabina Petersen; Andre Franke; Richard S Blumberg; Sebastian Zeissig
Journal:  Immunol Cell Biol       Date:  2016-10-11       Impact factor: 5.126

Review 4.  Immunological off-target effects of imatinib.

Authors:  Laurence Zitvogel; Sylvie Rusakiewicz; Bertrand Routy; Maha Ayyoub; Guido Kroemer
Journal:  Nat Rev Clin Oncol       Date:  2016-03-31       Impact factor: 66.675

Review 5.  Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.

Authors:  Timothy J Vece; Levi B Watkin; Sarah Nicholas; Debra Canter; Michael C Braun; R Paul Guillerman; Karen W Eldin; Grant Bertolet; Scott McKinley; Marietta de Guzman; Lisa Forbes; Ivan Chinn; Jordan S Orange
Journal:  J Clin Immunol       Date:  2016-04-05       Impact factor: 8.317

6.  Decreased Expression of TMEM173 Predicts Poor Prognosis in Patients with Hepatocellular Carcinoma.

Authors:  Yang Bu; Fang Liu; Qing-An Jia; Song-Ning Yu
Journal:  PLoS One       Date:  2016-11-04       Impact factor: 3.240

7.  Multiplex family with GAD65-Abs neurologic syndromes.

Authors:  Aude Belbezier; Bastien Joubert; Gonzalo Montero-Martin; Marcelo Fernandez-Vina; Nicole Fabien; Véronique Rogemond; Emmanuel Mignot; Jérôme Honnorat
Journal:  Neurol Neuroimmunol Neuroinflamm       Date:  2017-12-05

8.  DNA sequencing of anatomy lab cadavers to provide hands-on precision medicine introduction to medical students.

Authors:  Ramu Anandakrishnan; Tiffany L Carpenetti; Peter Samuel; Breezy Wasko; Craig Johnson; Christy Smith; Jessica Kim; Pawel Michalak; Lin Kang; Nick Kinney; Arben Santo; John Anstrom; Harold R Garner; Robin T Varghese
Journal:  BMC Med Educ       Date:  2020-11-16       Impact factor: 2.463
  8 in total

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