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Literature DB >> 27092795

A human inborn error connects the α's.

Isabelle Meyts¹, Jean-Laurent Casanova².

Abstract

Entities: Disease Species

Year: 2016 PMID： 27092795 DOI： 10.1038/ni.3420

Source DB: PubMed Journal: Nat Immunol ISSN： 1529-2908 Impact factor: 25.606

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13 in total

1. Activated STING in a vascular and pulmonary syndrome.

Authors: Y Liu; A A Jesus; B Marrero; Z Deng; M Boehm; A S Paller; D Yang; S E Ramsey; G A Montealegre Sanchez; K Tenbrock; H Wittkowski; O Y Jones; H S Kuehn; C-C R Lee; M A DiMattia; E W Cowen; B Gonzalez; I Palmer; J J DiGiovanna; A Biancotto; H Kim; W L Tsai; A M Trier; Y Huang; D L Stone; S Hill; H J Kim; C St Hilaire; S Gurprasad; N Plass; D Chapelle; I Horkayne-Szakaly; D Foell; A Barysenka; F Candotti; S M Holland; J D Hughes; H Mehmet; A C Issekutz; M Raffeld; J McElwee; J R Fontana; C P Minniti; S Moir; D L Kastner; M Gadina; A C Steven; P T Wingfield; S R Brooks; S D Rosenzweig; T A Fleisher; R Goldbach-Mansky
Journal: N Engl J Med Date: 2014-07-16 Impact factor: 91.245

2. Familial cutaneous amyloidosis with systemic manifestations in males.

Authors: M W Partington; P J Marriott; R S Prentice; A Cavaglia; N E Simpson
Journal: Am J Med Genet Date: 1981

3. A novel mutation in the POLE2 gene causing combined immunodeficiency.

Authors: Francesco Frugoni; Kerry Dobbs; Kerstin Felgentreff; Hasan Aldhekri; Bandar K Al Saud; Rand Arnaout; Afshan Ashraf Ali; Avinash Abhyankar; Fayhan Alroqi; Silvia Giliani; Mayra Martinez Ojeda; Erdyni Tsitsikov; Sung-Yun Pai; Jean Laurent Casanova; Luigi D Notarangelo; John P Manis
Journal: J Allergy Clin Immunol Date: 2015-09-11 Impact factor: 10.793

4. Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

Authors: Jana Pachlopnik Schmid; Roxane Lemoine; Nadine Nehme; Valéry Cormier-Daire; Patrick Revy; Franck Debeurme; Marianne Debré; Patrick Nitschke; Christine Bole-Feysot; Laurence Legeai-Mallet; Annick Lim; Jean-Pierre de Villartay; Capucine Picard; Anne Durandy; Alain Fischer; Geneviève de Saint Basile
Journal: J Exp Med Date: 2012-12-10 Impact factor: 14.307

5. Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Authors: Alexandre Belot; Evangeline Wassmer; Marinka Twilt; Jean-Christophe Lega; Leo Ah Zeef; Anthony Oojageer; Paul R Kasher; Anne-Laure Mathieu; Christophe Malcus; Julie Demaret; Nicole Fabien; Sophie Collardeau-Frachon; Laura Mechtouff; Laurent Derex; Thierry Walzer; Gillian I Rice; Isabelle Durieu; Yanick J Crow
Journal: Pediatr Rheumatol Online J Date: 2014-09-24 Impact factor: 3.054

6. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

Authors: Lien Van Eyck; Michael S Hershfield; Diana Pombal; Susan J Kelly; Nancy J Ganson; Leen Moens; Glynis Frans; Heidi Schaballie; Gert De Hertogh; James Dooley; Xavier Bossuyt; Carine Wouters; Adrian Liston; Isabelle Meyts
Journal: J Allergy Clin Immunol Date: 2014-11-25 Impact factor: 10.793

7. DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis.

Authors: Petro Starokadomskyy; Terry Gemelli; Jonathan J Rios; Chao Xing; Richard C Wang; Haiying Li; Vladislav Pokatayev; Igor Dozmorov; Shaheen Khan; Naoteru Miyata; Guadalupe Fraile; Prithvi Raj; Zhe Xu; Zigang Xu; Lin Ma; Zhimiao Lin; Huijun Wang; Yong Yang; Dan Ben-Amitai; Naama Orenstein; Huda Mussaffi; Eulalia Baselga; Gianluca Tadini; Eyal Grunebaum; Adrijan Sarajlija; Konrad Krzewski; Edward K Wakeland; Nan Yan; Maria Teresa de la Morena; Andrew R Zinn; Ezra Burstein
Journal: Nat Immunol Date: 2016-03-28 Impact factor: 25.606

8. Cytosolic RNA:DNA hybrids activate the cGAS-STING axis.

Authors: Arun K Mankan; Tobias Schmidt; Dhruv Chauhan; Marion Goldeck; Klara Höning; Moritz Gaidt; Andrew V Kubarenko; Liudmila Andreeva; Karl-Peter Hopfner; Veit Hornung
Journal: EMBO J Date: 2014-11-25 Impact factor: 11.598

9. Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.

Authors: Xianqin Zhang; Dusan Bogunovic; Béatrice Payelle-Brogard; Véronique Francois-Newton; Scott D Speer; Chao Yuan; Stefano Volpi; Zhi Li; Ozden Sanal; Davood Mansouri; Ilhan Tezcan; Gillian I Rice; Chunyuan Chen; Nahal Mansouri; Seyed Alireza Mahdaviani; Yuval Itan; Bertrand Boisson; Satoshi Okada; Lu Zeng; Xing Wang; Hui Jiang; Wenqiang Liu; Tiantian Han; Delin Liu; Tao Ma; Bo Wang; Mugen Liu; Jing-Yu Liu; Qing K Wang; Dilek Yalnizoglu; Lilliana Radoshevich; Gilles Uzé; Philippe Gros; Flore Rozenberg; Shen-Ying Zhang; Emmanuelle Jouanguy; Jacinta Bustamante; Adolfo García-Sastre; Laurent Abel; Pierre Lebon; Luigi D Notarangelo; Yanick J Crow; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Sandra Pellegrini
Journal: Nature Date: 2014-10-12 Impact factor: 49.962

10. RNA:DNA hybrids are a novel molecular pattern sensed by TLR9.

Authors: Rachel E Rigby; Lauren M Webb; Karen J Mackenzie; Yue Li; Andrea Leitch; Martin A M Reijns; Rachel J Lundie; Ailsa Revuelta; Donald J Davidson; Sandra Diebold; Yorgo Modis; Andrew S MacDonald; Andrew P Jackson
Journal: EMBO J Date: 2014-02-10 Impact factor: 11.598

9 in total

1. Evolution of the skin manifestations of X-linked pigmentary reticulate disorder.

Authors: P Starokadomskyy; L Sifuentes-Dominguez; T Gemelli; A R Zinn; M T Dossi; C Mellado; P Bertrand; A Borzutzky; E Burstein
Journal: Br J Dermatol Date: 2017-10-08 Impact factor: 9.302

2. Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Authors: Bertrand Boisson; Yoshitaka Honda; Masahiko Ajiro; Jacinta Bustamante; Matthieu Bendavid; Andrew R Gennery; Yuri Kawasaki; Jose Ichishima; Mitsujiro Osawa; Hiroshi Nihira; Takeshi Shiba; Takayuki Tanaka; Maya Chrabieh; Benedetta Bigio; Hong Hur; Yuval Itan; Yupu Liang; Satoshi Okada; Kazushi Izawa; Ryuta Nishikomori; Osamu Ohara; Toshio Heike; Laurent Abel; Anne Puel; Megumu K Saito; Jean-Laurent Casanova; Masatoshi Hagiwara; Takahiro Yasumi
Journal: J Clin Invest Date: 2018-12-18 Impact factor: 14.808

Review 3. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors: Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal: J Clin Immunol Date: 2020-08-27 Impact factor: 8.317

4. Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytes.

Authors: Silvia Cerboni; Nadia Jeremiah; Matteo Gentili; Ulf Gehrmann; Cécile Conrad; Marie-Claude Stolzenberg; Capucine Picard; Bénédicte Neven; Alain Fischer; Sébastian Amigorena; Frédéric Rieux-Laucat; Nicolas Manel
Journal: J Exp Med Date: 2017-05-08 Impact factor: 14.307

5. Bloom syndrome protein restrains innate immune sensing of micronuclei by cGAS.

Authors: Yanick J Crow; Mounira Amor-Gueret; Nicolas Manel; Matthieu Gratia; Mathieu P Rodero; Cécile Conrad; Elias Bou Samra; Mathieu Maurin; Gillian I Rice; Darragh Duffy; Patrick Revy; Florence Petit; Russell C Dale
Journal: J Exp Med Date: 2019-04-01 Impact factor: 14.307

Review 6. Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.

Authors: Otavio Cabral-Marques; Lena F Schimke; Edgar Borges de Oliveira; Nadia El Khawanky; Rodrigo Nalio Ramos; Basel K Al-Ramadi; Gesmar Rodrigues Silva Segundo; Hans D Ochs; Antonio Condino-Neto
Journal: Front Immunol Date: 2019-11-26 Impact factor: 7.561