Literature DB >> 29408330

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.

María Bravo García-Morato1, Francisco Javier Aracil Santos2, Alejandro Contreras Briones3, Alfonso Blázquez Moreno4, Ángela Del Pozo Maté5, Ángeles Domínguez-Soto6, María José Beato Merino7, Lucía Del Pino Molina8, Juan Torres Canizales8, Ana Victoria Marin3, Elena Vallespín García5, Marta Feito Rodríguez9, Diego Plaza López Sabando10, Anaïs Jiménez-Reinoso3, Yasmina Mozo Del Castillo10, Francisco José Sanz Santaeufemia11, Raúl de Lucas-Laguna9, Paula P Cárdenas3, Laura Casamayor Polo12, María Coronel Díaz12, Mar Valés-Gómez4, Ernesto Roldán Santiago13, Antonio Ferreira Cerdán8, Julián Nevado Blanco5, Ángel L Corbí6, Hugh T Reyburn4, José Ramón Regueiro3, Eduardo López-Granados8, Rebeca Rodríguez Pena8.   

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Year:  2018        PMID： 29408330     DOI： 10.1016/j.jaci.2017.12.995

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  7 in total

1.  Complete IFN-γR1 Deficiency in a Boy Due to UPD(6)mat with IFNGR1 Novel Splicing Variant.

Authors:  Ping Zhang; Wenjing Ying; Bingbing Wu; Renchao Liu; Huijun Wang; Xiaochuan Wang; Yulan Lu
Journal:  J Clin Immunol       Date:  2021-01-27       Impact factor: 8.317

2.  Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.

Authors:  Carole Le Coz; David N Nguyen; Chun Su; Brian E Nolan; Amanda V Albrecht; Suela Xhani; Di Sun; Benjamin Demaree; Piyush Pillarisetti; Caroline Khanna; Francis Wright; Peixin Amy Chen; Samuel Yoon; Amy L Stiegler; Kelly Maurer; James P Garifallou; Amy Rymaszewski; Steven H Kroft; Timothy S Olson; Alix E Seif; Gerald Wertheim; Struan F A Grant; Linda T Vo; Jennifer M Puck; Kathleen E Sullivan; John M Routes; Viktoria Zakharova; Anna Shcherbina; Anna Mukhina; Natasha L Rudy; Anna C E Hurst; T Prescott Atkinson; Titus J Boggon; Hakon Hakonarson; Adam R Abate; Joud Hajjar; Sarah K Nicholas; James R Lupski; James Verbsky; Ivan K Chinn; Michael V Gonzalez; Andrew D Wells; Alex Marson; Gregory M K Poon; Neil Romberg
Journal:  J Exp Med       Date:  2021-05-05       Impact factor: 14.307

3.  IFN Regulatory Factor 4 Controls Post-ischemic Inflammation and Prevents Chronic Kidney Disease.

Authors:  Georg Lorenz; Foteini Moschovaki-Filippidou; Vivian Würf; Philipp Metzger; Stefanie Steiger; Falk Batz; Javier Carbajo-Lozoya; Joanna Koziel; Max Schnurr; Clemens D Cohen; Christoph Schmaderer; Hans-Joachim Anders; Maja Lindenmeyer; Maciej Lech
Journal:  Front Immunol       Date:  2019-10-01       Impact factor: 7.561

4.  Flow Cytometry-Based Protocols for the Analysis of Human Plasma Cell Differentiation.

Authors:  Sharesta Khoenkhoen; Monika Ádori; Gabriel K Pedersen; Gunilla B Karlsson Hedestam
Journal:  Front Immunol       Date:  2020-09-29       Impact factor: 7.561

5.  LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy.

Authors:  Pere Soler-Palacín; Marina Garcia-Prat; Andrea Martín-Nalda; Clara Franco-Jarava; Jacques G Rivière; Alberto Plaja; Daniela Bezdan; Mattia Bosio; Mónica Martínez-Gallo; Stephan Ossowski; Roger Colobran
Journal:  Front Immunol       Date:  2018-10-16       Impact factor: 7.561

Review 6.  Cellular and molecular mechanisms breaking immune tolerance in inborn errors of immunity.

Authors:  Georgios Sogkas; Faranaz Atschekzei; Ignatius Ryan Adriawan; Natalia Dubrowinskaja; Torsten Witte; Reinhold Ernst Schmidt
Journal:  Cell Mol Immunol       Date:  2021-04-01       Impact factor: 11.530

7.  Novel aspects of regulatory T cell dysfunction as a therapeutic target in giant cell arteritis.

Authors:  Ignatius Ryan Adriawan; Faranaz Atschekzei; Oliver Dittrich-Breiholz; Panagiotis Garantziotis; Stefanie Hirsch; Linus Maximillian Risser; Maike Kosanke; Reinhold Ernst Schmidt; Torsten Witte; Georgios Sogkas
Journal:  Ann Rheum Dis       Date:  2021-09-28       Impact factor: 19.103
  7 in total

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