Literature DB >> 30329057

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.

Carmen Oleaga-Quintas1,2,3, Caroline Deswarte1,2, Marcela Moncada-Vélez4, Ayse Metin5, Indumathi Krishna Rao6, Saliha Kanik-Yüksek5, Alejandro Nieto-Patlán1,2, Antoine Guérin1,2, Belgin Gülhan5, Savita Murthy6, Aslinur Özkaya-Parlakay5, Laurent Abel1,2,7, Rubén Martínez-Barricarte7, Rebeca Pérez de Diego8, Stéphanie Boisson-Dupuis1,2,7, Xiao-Fei Kong7, Jean-Laurent Casanova1,2,7,9,10, Jacinta Bustamante1,2,7,11.   

Abstract

Entities:  

Year:  2019        PMID: 30329057      PMCID: PMC6337693          DOI: 10.1093/hmg/ddy357

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


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  5 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

Review 3.  Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity.

Authors:  Laura Pöyhönen; Jacinta Bustamante; Jean-Laurent Casanova; Emmanuelle Jouanguy; Qian Zhang
Journal:  J Clin Immunol       Date:  2019-05-23       Impact factor: 8.317

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.  A Novel Splice Site Mutation in IFNGR2 in Patients With Primary Immunodeficiency Exhibiting Susceptibility to Mycobacterial Diseases.

Authors:  Aravind K Bandari; Babylakshmi Muthusamy; Sunil Bhat; Periyasamy Govindaraj; Pavithra Rajagopalan; Aparna Dalvi; Siddharth Shankar; Remya Raja; Kavita S Reddy; Manisha Madkaikar; Akhilesh Pandey
Journal:  Front Immunol       Date:  2019-08-21       Impact factor: 7.561

  5 in total

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