Literature DB >> 22748593

Herpes in STAT1 gain-of-function mutation [corrected].

Beáta Tóth1, Leonóra Méhes1, Szilvia Taskó1, Zsuzsanna Szalai2, Zsolt Tulassay3, Sophie Cypowyj4, Jean-Laurent Casanova5, Anne Puel6, László Maródi7.   

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Year:  2012        PMID： 22748593     DOI： 10.1016/S0140-6736(12)60365-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  33 in total

1.  Orf Infection in a Patient with Stat1 Gain-of-Function.

Authors:  Sara Sebnem Kilic; Anne Puel; Jean-Laurent Casanova
Journal:  J Clin Immunol       Date:  2014-11-04       Impact factor: 8.317

2.  IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.

Authors:  Najla Mekki; Imen Ben-Mustapha; Luyan Liu; Lobna Boussofara; Satoshi Okada; Sophie Cypowyj; Najet Ghariani; Wafa Saidi; Mohamed Denguezli; Jean-Laurent Casanova; Anne Puel; Mohamed-Ridha Barbouche
Journal:  J Invest Dermatol       Date:  2013-11-11       Impact factor: 8.551

Review 3.  A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation.

Authors:  Juan Carlos Aldave; Enrique Cachay; Luis Núñez; Ausberto Chunga; Sergio Murillo; Sophie Cypowyj; Jacinta Bustamante; Anne Puel; Jean-Laurent Casanova; Armando Koo
Journal:  J Clin Immunol       Date:  2013-10-09       Impact factor: 8.317

Review 4.  Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis.

Authors:  Anne Puel; Sophie Cypowyj; László Maródi; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Curr Opin Allergy Clin Immunol       Date:  2012-12

5.  Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Authors:  Osamu Hirata; Satoshi Okada; Miyuki Tsumura; Reiko Kagawa; Mizuka Miki; Hiroshi Kawaguchi; Kazuhiro Nakamura; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Yoshihiro Takihara; Masao Kobayashi
Journal:  Haematologica       Date:  2013-04-12       Impact factor: 9.941

6.  A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis.

Authors:  Jakob Nielsen; Emil Kofod-Olsen; Eva Spaun; Carsten S Larsen; Mette Christiansen; Trine Hyrup Mogensen
Journal:  BMJ Case Rep       Date:  2015-10-22

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

8.  Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Authors:  Alexander Vargas-Hernández; Emily M Mace; Ofer Zimmerman; Christa S Zerbe; Alexandra F Freeman; Sergio Rosenzweig; Jennifer W Leiding; Troy Torgerson; Matthew C Altman; Edith Schussler; Charlotte Cunningham-Rundles; Ivan K Chinn; Alexandre F Carisey; Imelda C Hanson; Nicholas L Rider; Steven M Holland; Jordan S Orange; Lisa R Forbes
Journal:  J Allergy Clin Immunol       Date:  2017-10-27       Impact factor: 10.793

Review 9.  Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature.

Authors:  Christa S Zerbe; Beatriz E Marciano; Rohit K Katial; Carah B Santos; Nick Adamo; Amy P Hsu; Mary E Hanks; Dirk N Darnell; Martha M Quezado; Cathleen Frein; Lisa A Barnhart; Victoria L Anderson; Gulbu Uzel; Alexandra F Freeman; Andrea Lisco; Avindra Nath; Eugene O Major; Elizabeth P Sampaio; Steven M Holland
Journal:  Clin Infect Dis       Date:  2016-01-06       Impact factor: 9.079

Review 10.  Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

Authors:  László Maródi; Sophie Cypowyj; Beáta Tóth; Liudmyla Chernyshova; Anne Puel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2012-10-03       Impact factor: 10.793
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