Literature DB >> 24105462

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

Juan Carlos Aldave1, Enrique Cachay, Luis Núñez, Ausberto Chunga, Sergio Murillo, Sophie Cypowyj, Jacinta Bustamante, Anne Puel, Jean-Laurent Casanova, Armando Koo.   

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Year:  2013        PMID： 24105462     DOI： 10.1007/s10875-013-9947-5

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


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  18 in total

1.  Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

Authors:  Shunichiro Takezaki; Masafumi Yamada; Masahiko Kato; Myoung-Ja Park; Kenichi Maruyama; Yasuhiro Yamazaki; Natsuko Chida; Osamu Ohara; Ichiro Kobayashi; Tadashi Ariga
Journal:  J Immunol       Date:  2012-06-22       Impact factor: 5.422

Review 2.  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

3.  Autosomal dominant cases of chronic mucocutaneous candidiasis segregates with mutations of signal transducer and activator of transcription 1, but not of Toll-like receptor 3.

Authors:  Maysoun Al Rushood; Christine McCusker; Bruce Mazer; Reza Alizadehfar; Bodo Grimbacher; Mark Depner; Moshe Ben-Shoshan
Journal:  J Pediatr       Date:  2013-03-26       Impact factor: 4.406

4.  Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

Authors:  Anne Puel; Sophie Cypowyj; Jacinta Bustamante; Jill F Wright; Luyan Liu; Hye Kyung Lim; Mélanie Migaud; Laura Israel; Maya Chrabieh; Magali Audry; Matthew Gumbleton; Antoine Toulon; Christine Bodemer; Jamila El-Baghdadi; Matthew Whitters; Theresa Paradis; Jonathan Brooks; Mary Collins; Neil M Wolfman; Saleh Al-Muhsen; Miguel Galicchio; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Science       Date:  2011-02-24       Impact factor: 47.728

5.  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

6.  Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

Authors:  Tomohiro Hori; Hidenori Ohnishi; Takahide Teramoto; Kohji Tsubouchi; Takafumi Naiki; Yoshinobu Hirose; Osamu Ohara; Mariko Seishima; Hideo Kaneko; Toshiyuki Fukao; Naomi Kondo
Journal:  J Clin Immunol       Date:  2012-07-31       Impact factor: 8.317

7.  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

8.  Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.

Authors:  Xiaowen Wang; Zhimiao Lin; Lujuan Gao; Aiping Wang; Zhe Wan; Wei Chen; Yong Yang; Ruoyu Li
Journal:  J Allergy Clin Immunol       Date:  2012-12-14       Impact factor: 10.793

9.  Severe aplastic anemia associated with chronic mucocutaneous candidiasis. Immunologic and hematologic reconstitution after allogeneic bone marrow transplantation.

Authors:  H J Deeg; L G Lum; J Sanders; G J Levy; K M Sullivan; P Beatty; E D Thomas; R Storb
Journal:  Transplantation       Date:  1986-05       Impact factor: 4.939

10.  Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency.

Authors:  Waleed Al-Herz; Aziz Bousfiha; Jean-Laurent Casanova; Helen Chapel; Mary Ellen Conley; Charlotte Cunningham-Rundles; Amos Etzioni; Alain Fischer; Jose Luis Franco; Raif S Geha; Lennart Hammarström; Shigeaki Nonoyama; Luigi Daniele Notarangelo; Hans Dieter Ochs; Jennifer M Puck; Chaim M Roifman; Reinhard Seger; Mimi L K Tang
Journal:  Front Immunol       Date:  2011-11-08       Impact factor: 7.561
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  20 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

Review 2.  Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

Authors:  Luigi D Notarangelo; Thomas A Fleisher
Journal:  J Allergy Clin Immunol       Date:  2017-03       Impact factor: 10.793

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

4.  Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Authors:  Reiko Kagawa; Ryoji Fujiki; Miyuki Tsumura; Sonoko Sakata; Shiho Nishimura; Yuval Itan; Xiao-Fei Kong; Zenichiro Kato; Hidenori Ohnishi; Osamu Hirata; Satoshi Saito; Maiko Ikeda; Jamila El Baghdadi; Aziz Bousfiha; Kaori Fujiwara; Matias Oleastro; Judith Yancoski; Laura Perez; Silvia Danielian; Fatima Ailal; Hidetoshi Takada; Toshiro Hara; Anne Puel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Osamu Ohara; Satoshi Okada; Masao Kobayashi
Journal:  J Allergy Clin Immunol       Date:  2016-12-20       Impact factor: 10.793

Review 5.  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

6.  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 7.  Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.

Authors:  Ottavia Maria Delmonte; Luigi Daniele Notarangelo
Journal:  Med Princ Pract       Date:  2019-10-10       Impact factor: 1.927

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

10.  Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1.

Authors:  Safa Baris; Fayhan Alroqi; Ayca Kiykim; Elif Karakoc-Aydiner; Ismail Ogulur; Ahmet Ozen; Louis-Marie Charbonnier; Mustafa Bakır; Kaan Boztug; Talal A Chatila; Isil B Barlan
Journal:  J Clin Immunol       Date:  2016-07-05       Impact factor: 8.317
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