Literature DB >> 33501617

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

Ping Zhang1, Wenjing Ying2, Bingbing Wu1, Renchao Liu1, Huijun Wang1, Xiaochuan Wang3, Yulan Lu4.   

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Year:  2021        PMID： 33501617     DOI： 10.1007/s10875-021-00970-3

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


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  10 in total

1.  Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China.

Authors:  Wenjing Ying; Danru Liu; Xiaolong Dong; Wenjie Wang; Xiaoying Hui; Jia Hou; Haili Yao; Qinhua Zhou; Bijun Sun; Jinqiao Sun; Xiaochuan Wang
Journal:  J Clin Immunol       Date:  2019-07-31       Impact factor: 8.317

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

Authors:  María Bravo García-Morato; Francisco Javier Aracil Santos; Alejandro Contreras Briones; Alfonso Blázquez Moreno; Ángela Del Pozo Maté; Ángeles Domínguez-Soto; María José Beato Merino; Lucía Del Pino Molina; Juan Torres Canizales; Ana Victoria Marin; Elena Vallespín García; Marta Feito Rodríguez; Diego Plaza López Sabando; Anaïs Jiménez-Reinoso; Yasmina Mozo Del Castillo; Francisco José Sanz Santaeufemia; Raúl de Lucas-Laguna; Paula P Cárdenas; Laura Casamayor Polo; María Coronel Díaz; Mar Valés-Gómez; Ernesto Roldán Santiago; Antonio Ferreira Cerdán; Julián Nevado Blanco; Ángel L Corbí; Hugh T Reyburn; José Ramón Regueiro; Eduardo López-Granados; Rebeca Rodríguez Pena
Journal:  J Allergy Clin Immunol       Date:  2018-03-02       Impact factor: 10.793

3.  A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate.

Authors:  Mahsima Shabani; Soheila Aleyasin; Sara Kashef; Samaneh Zoghi; Caroline Deswarte; Jean-Laurent Casanova; Jacinta Bustamante; Nima Rezaei
Journal:  J Clin Immunol       Date:  2019-02-05       Impact factor: 8.317

4.  The Exon Junction Complex Undergoes a Compositional Switch that Alters mRNP Structure and Nonsense-Mediated mRNA Decay Activity.

Authors:  Justin W Mabin; Lauren A Woodward; Robert D Patton; Zhongxia Yi; Mengxuan Jia; Vicki H Wysocki; Ralf Bundschuh; Guramrit Singh
Journal:  Cell Rep       Date:  2018-11-19       Impact factor: 9.423

5.  Primary sulphonylurea therapy in a newborn with transient neonatal diabetes attributable to a paternal uniparental disomy 6q24 (UPD6).

Authors:  Uta Neumann; Christoph Bührer; Oliver Blankenstein; Peter Kühnen; Klemens Raile
Journal:  Diabetes Obes Metab       Date:  2017-10-05       Impact factor: 6.577

Review 6.  Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency.

Authors:  Carolina Prando; Stéphanie Boisson-Dupuis; Audrey V Grant; Xiao-Fei Kong; Jacinta Bustamante; Jacqueline Feinberg; Ariane Chapgier; Yoann Rose; Lucile Jannière; Elena Rizzardi; Qiuping Zhang; Catherine M Shanahan; Louis Viollet; Stanislas Lyonnet; Laurent Abel; Ezia Maria Ruga; Jean-Laurent Casanova
Journal:  Am J Med Genet A       Date:  2010-03       Impact factor: 2.802

Review 7.  IFN-γR1 defects: Mutation update and description of the IFNGR1 variation database.

Authors:  Esther van de Vosse; Jaap T van Dissel
Journal:  Hum Mutat       Date:  2017-08-03       Impact factor: 4.878

8.  LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency.

Authors:  Jérémie Rosain; Caroline Deswarte; Gonca Hancioglu; Carmen Oleaga-Quintas; Seyhan Kutlug; Ibrahim Kartal; Isinsu Kuzu; Laurie Toullec; Maud Tusseau; Jean-Laurent Casanova; Alisan Yildiran; Jacinta Bustamante
Journal:  J Clin Immunol       Date:  2019-08-03       Impact factor: 8.317

9.  The maternal uniparental disomy of chromosome 6 (upd(6)mat) "phenotype": result of placental trisomy 6 mosaicism?

Authors:  Thomas Eggermann; Barbara Oehl-Jaschkowitz; Severin Dicks; Wolfgang Thomas; Deniz Kanber; Beate Albrecht; Matthias Begemann; Ingo Kurth; Jasmin Beygo; Karin Buiting
Journal:  Mol Genet Genomic Med       Date:  2017-09-22       Impact factor: 2.183

10.  Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Authors:  Xinran Dong; Bo Liu; Lin Yang; Huijun Wang; Bingbing Wu; Renchao Liu; Hongbo Chen; Xiang Chen; Sha Yu; Bin Chen; Sujuan Wang; Xiu Xu; Wenhao Zhou; Yulan Lu
Journal:  J Med Genet       Date:  2020-01-31       Impact factor: 6.318
  10 in total

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