Literature DB >> 30317461

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

Stella P Hartono1, Alexander Vargas-Hernández1,2, Mark J Ponsford3, Ivan K Chinn1,2, Stephen Jolles3, Keith Wilson4, Lisa R Forbes5,6.   

Abstract

Entities:  

Keywords:  Chronic mucocutaneous candidiasis; Combined immunodeficiency; Common variable immunodeficiency; Hematopoietic stem cell transplant; STAT1 gain of function

Mesh：

Substances：

Year:  2018        PMID： 30317461     DOI： 10.1007/s10875-018-0554-3

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


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  7 in total

1.  Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Authors:  Jennifer W Leiding; Satoshi Okada; David Hagin; Mario Abinun; Anna Shcherbina; Dmitry N Balashov; Vy H D Kim; Adi Ovadia; Stephen L Guthery; Michael Pulsipher; Desa Lilic; Lisa A Devlin; Sharon Christie; Mark Depner; Sebastian Fuchs; Annet van Royen-Kerkhof; Caroline Lindemans; Aleksandra Petrovic; Kathleen E Sullivan; Nancy Bunin; Sara Sebnem Kilic; Fikret Arpaci; Oscar de la Calle-Martin; Laura Martinez-Martinez; Juan Carlos Aldave; Masao Kobayashi; Teppei Ohkawa; Kohsuke Imai; Akihiro Iguchi; Chaim M Roifman; Andrew R Gennery; Mary Slatter; Hans D Ochs; Tomohiro Morio; Troy R Torgerson
Journal:  J Allergy Clin Immunol       Date:  2017-06-07       Impact factor: 10.793

2.  Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.

Authors:  Asbjørg Stray-Pedersen; Hanne Sørmo Sorte; Pubudu Samarakoon; Tomasz Gambin; Ivan K Chinn; Zeynep H Coban Akdemir; Hans Christian Erichsen; Lisa R Forbes; Shen Gu; Bo Yuan; Shalini N Jhangiani; Donna M Muzny; Olaug Kristin Rødningen; Ying Sheng; Sarah K Nicholas; Lenora M Noroski; Filiz O Seeborg; Carla M Davis; Debra L Canter; Emily M Mace; Timothy J Vece; Carl E Allen; Harshal A Abhyankar; Philip M Boone; Christine R Beck; Wojciech Wiszniewski; Børre Fevang; Pål Aukrust; Geir E Tjønnfjord; Tobias Gedde-Dahl; Henrik Hjorth-Hansen; Ingunn Dybedal; Ingvild Nordøy; Silje F Jørgensen; Tore G Abrahamsen; Torstein Øverland; Anne Grete Bechensteen; Vegard Skogen; Liv T N Osnes; Mari Ann Kulseth; Trine E Prescott; Cecilie F Rustad; Ketil R Heimdal; John W Belmont; Nicholas L Rider; Javier Chinen; Tram N Cao; Eric A Smith; Maria Soledad Caldirola; Liliana Bezrodnik; Saul Oswaldo Lugo Reyes; Francisco J Espinosa Rosales; Nina Denisse Guerrero-Cursaru; Luis Alberto Pedroza; Cecilia M Poli; Jose L Franco; Claudia M Trujillo Vargas; Juan Carlos Aldave Becerra; Nicola Wright; Thomas B Issekutz; Andrew C Issekutz; Jordan Abbott; Jason W Caldwell; Diana K Bayer; Alice Y Chan; Alessandro Aiuti; Caterina Cancrini; Eva Holmberg; Christina West; Magnus Burstedt; Ender Karaca; Gözde Yesil; Hasibe Artac; Yavuz Bayram; Mehmed Musa Atik; Mohammad K Eldomery; Mohammad S Ehlayel; Stephen Jolles; Berit Flatø; Alison A Bertuch; I Celine Hanson; Victor W Zhang; Lee-Jun Wong; Jianhong Hu; Magdalena Walkiewicz; Yaping Yang; Christine M Eng; Eric Boerwinkle; Richard A Gibbs; William T Shearer; Robert Lyle; Jordan S Orange; James R Lupski
Journal:  J Allergy Clin Immunol       Date:  2016-07-16       Impact factor: 10.793

3.  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

4.  Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival.

Authors:  Neil Romberg; Henner Morbach; Monica G Lawrence; Sanghyun Kim; Insoo Kang; Steven M Holland; Joshua D Milner; Eric Meffre
Journal:  J Allergy Clin Immunol       Date:  2013-02-10       Impact factor: 10.793

5.  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

6.  Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Authors:  Lisa R Forbes; Tiphanie P Vogel; Megan A Cooper; Johana Castro-Wagner; Edith Schussler; Katja G Weinacht; Ashley S Plant; Helen C Su; Eric J Allenspach; Mary Slatter; Mario Abinun; Desa Lilic; Charlotte Cunningham-Rundles; Olive Eckstein; Peter Olbrich; R Paul Guillerman; Niraj C Patel; Yesim Y Demirdag; Christa Zerbe; Alexandra F Freeman; Steven M Holland; Paul Szabolcs; Andrew Gennery; Troy R Torgerson; Joshua D Milner; Jennifer W Leiding
Journal:  J Allergy Clin Immunol       Date:  2018-08-06       Impact factor: 10.793

7.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Authors:  Luyan Liu; Satoshi Okada; Xiao-Fei Kong; Alexandra Y Kreins; Sophie Cypowyj; Avinash Abhyankar; Julie Toubiana; Yuval Itan; Magali Audry; Patrick Nitschke; Cécile Masson; Beata Toth; Jérome Flatot; Mélanie Migaud; Maya Chrabieh; Tatiana Kochetkov; Alexandre Bolze; Alessandro Borghesi; Antoine Toulon; Julia Hiller; Stefanie Eyerich; Kilian Eyerich; Vera Gulácsy; Ludmyla Chernyshova; Viktor Chernyshov; Anastasia Bondarenko; Rosa María Cortés Grimaldo; Lizbeth Blancas-Galicia; Ileana Maria Madrigal Beas; Joachim Roesler; Klaus Magdorf; Dan Engelhard; Caroline Thumerelle; Pierre-Régis Burgel; Miriam Hoernes; Barbara Drexel; Reinhard Seger; Theresia Kusuma; Annette F Jansson; Julie Sawalle-Belohradsky; Bernd Belohradsky; Emmanuelle Jouanguy; Jacinta Bustamante; Mélanie Bué; Nathan Karin; Gizi Wildbaum; Christine Bodemer; Olivier Lortholary; Alain Fischer; Stéphane Blanche; Saleh Al-Muhsen; Janine Reichenbach; Masao Kobayashi; Francisco Espinosa Rosales; Carlos Torres Lozano; Sara Sebnem Kilic; Matias Oleastro; Amos Etzioni; Claudia Traidl-Hoffmann; Ellen D Renner; Laurent Abel; Capucine Picard; László Maródi; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2011-07-04       Impact factor: 14.307
  7 in total
  5 in total

Review 1.  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

2.  Live Cell Imaging Demonstrates Multiple Routes Toward a STAT1 Gain-of-Function Phenotype.

Authors:  Simone Giovannozzi; Veerle Lemmens; Jelle Hendrix; Rik Gijsbers; Rik Schrijvers
Journal:  Front Immunol       Date:  2020-06-09       Impact factor: 7.561

3.  Phenogenon: Gene to phenotype associations for rare genetic diseases.

Authors:  Nikolas Pontikos; Cian Murphy; Ismail Moghul; Gavin Arno; Kaoru Fujinami; Yu Fujinami; Dayyanah Sumodhee; Susan Downes; Andrew Webster; Jing Yu
Journal:  PLoS One       Date:  2020-04-09       Impact factor: 3.240

4.  Transcriptional Profiling of STAT1 Gain-of-Function Reveals Common and Mutation-Specific Fingerprints.

Authors:  Simone Giovannozzi; Jonas Demeulemeester; Rik Schrijvers; Rik Gijsbers
Journal:  Front Immunol       Date:  2021-02-17       Impact factor: 7.561

5.  Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.

Authors:  Olivia A C Lamers; Bas M Smits; Helen Louisa Leavis; Godelieve J de Bree; Charlotte Cunningham-Rundles; Virgil A S H Dalm; Hsi-En Ho; John R Hurst; Hanna IJspeert; Sabine M P J Prevaes; Alex Robinson; Astrid C van Stigt; Suzanne Terheggen-Lagro; Annick A J M van de Ven; Klaus Warnatz; Janneke H H M van de Wijgert; Joris van Montfrans
Journal:  Front Immunol       Date:  2021-04-15       Impact factor: 7.561
  5 in total

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