Literature DB >> 33428086

Life-Saving, Dose-Adjusted, Targeted Therapy in a Patient with a STAT3 Gain-of-Function Mutation.

Eytan Sarfati1, Jérome Hadjadj2,3, Mathieu Fusaro2,4, Roman Klifa1,2, Marion Grimaud5, Laureline Berteloot6, Alice Hadchouel2,7, Cécile Godot8, Marie-Claude Stolzenberg3, Marie-Louise Frémond2,9, Claire Pressiat10, Thierry Molina2,11, Alain Fischer1,2,12, Capucine Picard1,2,4, Sylvain Renolleau2,5, Frederic Rieux-Laucat3, Stephane Blanche1,2, Benedicte Neven13,14,15.   

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Year:  2021        PMID： 33428086     DOI： 10.1007/s10875-020-00914-3

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


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  4 in total

1.  A Novel STAT3 Gain-of-Function Mutation in Fatal Infancy-Onset Interstitial Lung Disease.

Authors:  Mengyue Deng; Yue Li; Yulu Li; Xiaolan Mao; Han Ke; Weiling Liang; Xiaoguang Lei; Yu-Lung Lau; Huawei Mao
Journal:  Front Immunol       Date:  2022-05-23       Impact factor: 8.786

2.  The role of exome sequencing in childhood interstitial or diffuse lung disease.

Authors:  Suzanna E L Temple; Gladys Ho; Bruce Bennetts; Kirsten Boggs; Nada Vidic; David Mowat; John Christodoulou; André Schultz; Thet Gayagay; Tony Roscioli; Ying Zhu; Sebastian Lunke; David Armstrong; Joanne Harrison; Nitin Kapur; Tim McDonald; Hiran Selvadurai; Andrew Tai; Zornitza Stark; Adam Jaffe
Journal:  Orphanet J Rare Dis       Date:  2022-09-09       Impact factor: 4.303

Review 3.  Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity.

Authors:  Jérôme Hadjadj; Marie-Louise Frémond; Bénédicte Neven
Journal:  Front Immunol       Date:  2021-09-17       Impact factor: 7.561

Review 4.  Germline STAT3 gain-of-function mutations in primary immunodeficiency: Impact on the cellular and clinical phenotype.

Authors:  Laura Faletti; Stephan Ehl; Maximilian Heeg
Journal:  Biomed J       Date:  2021-03-20       Impact factor: 4.910
  4 in total

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