Literature DB >> 30054782

Double Trouble? CMC with a Mutation in both AIRE and STAT1.

Huda Al Dhanhani1, Tariq Al Shehri2, Desa Lilic2, Mark Buddles3, Kai Kisand4, Maria E Maccari5, Timothy Ronan Leahy6.   

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Year:  2018        PMID： 30054782     DOI： 10.1007/s10875-018-0536-5

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


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  8 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.  Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation.

Authors:  Ali Sobh; Janet Chou; Lynda Schneider; Raif S Geha; Michel J Massaad
Journal:  J Allergy Clin Immunol       Date:  2016-03-02       Impact factor: 10.793

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

Review 4.  Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome.

Authors:  Kai Kisand; Pärt Peterson
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

5.  Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases.

Authors:  Bergithe E Oftedal; Alexander Hellesen; Martina M Erichsen; Eirik Bratland; Ayelet Vardi; Jaakko Perheentupa; E Helen Kemp; Torunn Fiskerstrand; Marte K Viken; Anthony P Weetman; Sarel J Fleishman; Siddharth Banka; William G Newman; W A C Sewell; Leila S Sozaeva; Tetyana Zayats; Kristoffer Haugarvoll; Elizaveta M Orlova; Jan Haavik; Stefan Johansson; Per M Knappskog; Kristian Løvås; Anette S B Wolff; Jakub Abramson; Eystein S Husebye
Journal:  Immunity       Date:  2015-06-16       Impact factor: 31.745

6.  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

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

8.  A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.

Authors:  Kornvalee Meesilpavikkai; Willem A Dik; Benjamin Schrijver; Nicole M A Nagtzaam; Angelique van Rijswijk; Gertjan J Driessen; Peter J van der Spek; P Martin van Hagen; Virgil A S H Dalm
Journal:  Front Immunol       Date:  2017-03-13       Impact factor: 7.561
  8 in total
  2 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
  2 in total

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