Literature DB >> 29804236

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation.

Anna E Smyth1, Epp Kaleviste2, Aisling Snow3, Kai Kisand2, Colin J McMahon4, Andrew J Cant5, T Ronan Leahy6.   

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Year:  2018        PMID： 29804236     DOI： 10.1007/s10875-018-0513-z

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


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  6 in total

1.  Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation.

Authors:  Eleanor Higgins; Tariq Al Shehri; Maeve A McAleer; Niall Conlon; Conleth Feighery; Desa Lilic; Alan D Irvine
Journal:  J Allergy Clin Immunol       Date:  2015-02       Impact factor: 10.793

2.  A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome.

Authors:  Frank Rutsch; Mary MacDougall; Changming Lu; Insa Buers; Olga Mamaeva; Yvonne Nitschke; Gillian I Rice; Heidi Erlandsen; Hans Gerd Kehl; Holger Thiele; Peter Nürnberg; Wolfgang Höhne; Yanick J Crow; Annette Feigenbaum; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2015-01-22       Impact factor: 11.025

3.  STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Authors:  Frank L van de Veerdonk; Theo S Plantinga; Alexander Hoischen; Sanne P Smeekens; Leo A B Joosten; Christian Gilissen; Peer Arts; Diana C Rosentul; Andrew J Carmichael; Chantal A A Smits-van der Graaf; Bart Jan Kullberg; Jos W M van der Meer; Desa Lilic; Joris A Veltman; Mihai G Netea
Journal:  N Engl J Med       Date:  2011-06-29       Impact factor: 91.245

4.  Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Authors:  Gulbu Uzel; Elizabeth P Sampaio; Monica G Lawrence; Amy P Hsu; Mary Hackett; Morna J Dorsey; Richard J Noel; James W Verbsky; Alexandra F Freeman; Erin Janssen; Francisco A Bonilla; Joseph Pechacek; Prabha Chandrasekaran; Sarah K Browne; Anahita Agharahimi; Ahmed M Gharib; Sara C Mannurita; Jae Joon Yim; Eleonora Gambineri; Troy Torgerson; Dat Q Tran; Joshua D Milner; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2013-03-25       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.  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
  6 in total
  4 in total

1.  Novel Gain-of-Function Mutation in Stat1 Sumoylation Site Leads to CMC/CID Phenotype Responsive to Ruxolitinib.

Authors:  Tariq Al Shehri; Kimberly Gilmour; Florian Gothe; Sam Loughlin; Shahnaz Bibi; Andrew D Rowan; Angela Grainger; Thivytra Mohanadas; Andrew J Cant; Mary A Slatter; Sophie Hambleton; Desa Lilic; Timothy R Leahy
Journal:  J Clin Immunol       Date:  2019-09-11       Impact factor: 8.317

Review 2.  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

3.  Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies.

Authors:  Irit Tirosh; Shiri Spielman; Ortal Barel; Reut Ram; Tali Stauber; Gideon Paret; Marina Rubinsthein; Itai M Pessach; Maya Gerstein; Yair Anikster; Rachel Shukrun; Adi Dagan; Katerina Adler; Ben Pode-Shakked; Alexander Volkov; Marina Perelman; Shoshana Greenberger; Raz Somech; Einat Lahav; Amar J Majmundar; Shai Padeh; Friedhelm Hildebrandt; Asaf Vivante
Journal:  Pediatr Rheumatol Online J       Date:  2019-07-30       Impact factor: 3.054

Review 4.  The type I interferonopathies: 10 years on.

Authors:  Yanick J Crow; Daniel B Stetson
Journal:  Nat Rev Immunol       Date:  2021-10-20       Impact factor: 108.555
  4 in total

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