Literature DB >> 31377971

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

Jérémie Rosain1,2,3, Caroline Deswarte4,5, Gonca Hancioglu6, Carmen Oleaga-Quintas4,5, Seyhan Kutlug6, Ibrahim Kartal7, Isinsu Kuzu8, Laurie Toullec9, Maud Tusseau9, Jean-Laurent Casanova4,5,10,11,12, Alisan Yildiran6, Jacinta Bustamante13,14,15,16.   

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Year:  2019        PMID： 31377971      PMCID： PMC8165577          DOI： 10.1007/s10875-019-00667-8

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


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  13 in total

1.  IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis.

Authors:  Stéphanie Humblet-Baron; Dean Franckaert; James Dooley; Fatima Ailal; Aziz Bousfiha; Caroline Deswarte; Carmen Oleaga-Quintas; Jean-Laurent Casanova; Jacinta Bustamante; Adrian Liston
Journal:  J Allergy Clin Immunol       Date:  2018-12-19       Impact factor: 10.793

2.  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

Review 3.  Computational tools to unmask transposable elements.

Authors:  Patricia Goerner-Potvin; Guillaume Bourque
Journal:  Nat Rev Genet       Date:  2018-11       Impact factor: 53.242

Review 4.  Mendelian susceptibility to mycobacterial disease: 2014-2018 update.

Authors:  Jérémie Rosain; Xiao-Fei Kong; Ruben Martinez-Barricarte; Carmen Oleaga-Quintas; Noé Ramirez-Alejo; Janet Markle; Satoshi Okada; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  Immunol Cell Biol       Date:  2018-10-25       Impact factor: 5.126

5.  Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.

Authors:  Stéphanie Boisson-Dupuis; Noe Ramirez-Alejo; Zhi Li; Etienne Patin; Geetha Rao; Gaspard Kerner; Che Kang Lim; Dimitry N Krementsov; Nicholas Hernandez; Cindy S Ma; Qian Zhang; Janet Markle; Ruben Martinez-Barricarte; Kathryn Payne; Robert Fisch; Caroline Deswarte; Joshua Halpern; Matthieu Bouaziz; Jeanette Mulwa; Durga Sivanesan; Tomi Lazarov; Rodrigo Naves; Patricia Garcia; Yuval Itan; Bertrand Boisson; Alix Checchi; Fabienne Jabot-Hanin; Aurélie Cobat; Andrea Guennoun; Carolyn C Jackson; Sevgi Pekcan; Zafer Caliskaner; Jaime Inostroza; Beatriz Tavares Costa-Carvalho; Jose Antonio Tavares de Albuquerque; Humberto Garcia-Ortiz; Lorena Orozco; Tayfun Ozcelik; Ahmed Abid; Ismail Abderahmani Rhorfi; Hicham Souhi; Hicham Naji Amrani; Adil Zegmout; Frédéric Geissmann; Stephen W Michnick; Ingrid Muller-Fleckenstein; Bernhard Fleckenstein; Anne Puel; Michael J Ciancanelli; Nico Marr; Hassan Abolhassani; María Elvira Balcells; Antonio Condino-Neto; Alexis Strickler; Katia Abarca; Cory Teuscher; Hans D Ochs; Ismail Reisli; Esra H Sayar; Jamila El-Baghdadi; Jacinta Bustamante; Lennart Hammarström; Stuart G Tangye; Sandra Pellegrini; Lluis Quintana-Murci; Laurent Abel; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-12-21

6.  Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23.

Authors:  Rubén Martínez-Barricarte; Janet G Markle; Cindy S Ma; Elissa K Deenick; Noé Ramírez-Alejo; Federico Mele; Daniela Latorre; Seyed Alireza Mahdaviani; Caner Aytekin; Davood Mansouri; Vanessa L Bryant; Fabienne Jabot-Hanin; Caroline Deswarte; Alejandro Nieto-Patlán; Laura Surace; Gaspard Kerner; Yuval Itan; Sandra Jovic; Danielle T Avery; Natalie Wong; Geetha Rao; Etienne Patin; Satoshi Okada; Benedetta Bigio; Bertrand Boisson; Franck Rapaport; Yoann Seeleuthner; Monika Schmidt; Aydan Ikinciogullari; Figen Dogu; Gonul Tanir; Payam Tabarsi; Mohammed Reza Bloursaz; Julia K Joseph; Avneet Heer; Xiao-Fei Kong; Mélanie Migaud; Tomi Lazarov; Frédéric Geissmann; Bernhard Fleckenstein; Cecilia Lindestam Arlehamn; Alessandro Sette; Anne Puel; Jean-François Emile; Esther van de Vosse; Lluis Quintana-Murci; James P Di Santo; Laurent Abel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Stuart G Tangye; Federica Sallusto; Jean-Laurent Casanova
Journal:  Sci Immunol       Date:  2018-12-21

Review 7.  Roles for retrotransposon insertions in human disease.

Authors:  Dustin C Hancks; Haig H Kazazian
Journal:  Mob DNA       Date:  2016-05-06

8.  Alu insertion variants alter mRNA splicing.

Authors:  Lindsay M Payer; Jared P Steranka; Daniel Ardeljan; JaNiece Walker; Kathryn C Fitzgerald; Peter A Calabresi; Thomas A Cooper; Kathleen H Burns
Journal:  Nucleic Acids Res       Date:  2019-01-10       Impact factor: 16.971

9.  Discovery and characterization of Alu repeat sequences via precise local read assembly.

Authors:  Julia H Wildschutte; Alayna Baron; Nicolette M Diroff; Jeffrey M Kidd
Journal:  Nucleic Acids Res       Date:  2015-10-25       Impact factor: 16.971

10.  Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients.

Authors:  Inge C de Vor; Pomme M van der Meulen; Vincent Bekker; Els M Verhard; Martijn H Breuning; Esther Harnisch; Maarten J D van Tol; Jantien W Wieringa; Esther van de Vosse; Robbert G M Bredius
Journal:  J Clin Immunol       Date:  2016-03-01       Impact factor: 8.317
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  4 in total

1.  Inherited human IFN-γ deficiency underlies mycobacterial disease.

Authors:  Gaspard Kerner; Jérémie Rosain; Antoine Guérin; Ahmad Al-Khabaz; Carmen Oleaga-Quintas; Franck Rapaport; Michel J Massaad; Jing-Ya Ding; Taushif Khan; Fatima Al Ali; Mahbuba Rahman; Caroline Deswarte; Rubén Martinez-Barricarte; Raif S Geha; Valentine Jeanne-Julien; Diane Garcia; Chih-Yu Chi; Rui Yang; Manon Roynard; Bernhard Fleckenstein; Flore Rozenberg; Stéphanie Boisson-Dupuis; Cheng-Lung Ku; Yoann Seeleuthner; Vivien Béziat; Nico Marr; Laurent Abel; Waleed Al-Herz; Jean-Laurent Casanova; Jacinta Bustamante
Journal:  J Clin Invest       Date:  2020-06-01       Impact factor: 14.808

Review 2.  Mendelian susceptibility to mycobacterial disease: recent discoveries.

Authors:  Jacinta Bustamante
Journal:  Hum Genet       Date:  2020-02-05       Impact factor: 4.132

3.  Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells.

Authors:  Rui Yang; Danielle T Avery; Katherine J L Jackson; Masato Ogishi; Ibtihal Benhsaien; Likun Du; Xiaofei Ye; Jing Han; Jérémie Rosain; Jessica N Peel; Marie-Alexandra Alyanakian; Bénédicte Neven; Sarah Winter; Anne Puel; Bertrand Boisson; Kathryn J Payne; Melanie Wong; Amanda J Russell; Yoko Mizoguchi; Satoshi Okada; Gulbu Uzel; Christopher C Goodnow; Sylvain Latour; Jalila El Bakkouri; Aziz Bousfiha; Kahn Preece; Paul E Gray; Baerbel Keller; Klaus Warnatz; Stéphanie Boisson-Dupuis; Laurent Abel; Qiang Pan-Hammarström; Jacinta Bustamante; Cindy S Ma; Jean-Laurent Casanova; Stuart G Tangye
Journal:  Sci Immunol       Date:  2022-07-22

4.  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
  4 in total

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