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17 in total

Review 1. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors: Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal: Curr Opin Immunol Date: 2015-01-31 Impact factor: 7.486

2. Identifying host immune effectors critical for protection against Candida albicans infections.

Authors: Andrew Y Koh
Journal: Virulence Date: 2016-06-23 Impact factor: 5.882

3. Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Authors: Katja G Weinacht; Louis-Marie Charbonnier; Fayhan Alroqi; Ashley Plant; Qi Qiao; Hao Wu; Clement Ma; Troy R Torgerson; Sergio D Rosenzweig; Thomas A Fleisher; Luigi D Notarangelo; Imelda C Hanson; Lisa R Forbes; Talal A Chatila
Journal: J Allergy Clin Immunol Date: 2017-01-27 Impact factor: 10.793

Review 4. Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors: Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal: Semin Immunol Date: 2014-10-26 Impact factor: 11.130

5. Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation.

Authors: Ayca Kiykim; Louis Marie Charbonnier; Arzu Akcay; Elif Karakoc-Aydiner; Ahmet Ozen; Gulyuz Ozturk; Talal A Chatila; Safa Baris
Journal: J Clin Immunol Date: 2018-12-13 Impact factor: 8.317

Review 6. Advances in basic and clinical immunology in 2013.

Authors: Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal: J Allergy Clin Immunol Date: 2014-02-28 Impact factor: 10.793

Review 7. Primary immunodeficiency update: Part II. Syndromes associated with mucocutaneous candidiasis and noninfectious cutaneous manifestations.

Authors: Dominique C Pichard; Alexandra F Freeman; Edward W Cowen
Journal: J Am Acad Dermatol Date: 2015-09 Impact factor: 11.527

Review 8. Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors: Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal: J Clin Immunol Date: 2020-08-27 Impact factor: 8.317

9. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Authors: Julie Toubiana; Satoshi Okada; Julia Hiller; Matias Oleastro; Macarena Lagos Gomez; Juan Carlos Aldave Becerra; Marie Ouachée-Chardin; Fanny Fouyssac; Katta Mohan Girisha; Amos Etzioni; Joris Van Montfrans; Yildiz Camcioglu; Leigh Ann Kerns; Bernd Belohradsky; Stéphane Blanche; Aziz Bousfiha; Carlos Rodriguez-Gallego; Isabelle Meyts; Kai Kisand; Janine Reichenbach; Ellen D Renner; Sergio Rosenzweig; Bodo Grimbacher; Frank L van de Veerdonk; Claudia Traidl-Hoffmann; Capucine Picard; Laszlo Marodi; Tomohiro Morio; Masao Kobayashi; Desa Lilic; Joshua D Milner; Steven Holland; Jean-Laurent Casanova; Anne Puel
Journal: Blood Date: 2016-04-25 Impact factor: 22.113

Review 10. Primary immunodeficiencies underlying fungal infections.

Authors: Fanny Lanternier; Sophie Cypowyj; Capucine Picard; Jacinta Bustamante; Olivier Lortholary; Jean-Laurent Casanova; Anne Puel
Journal: Curr Opin Pediatr Date: 2013-12 Impact factor: 2.856