Literature DB >> 23541088

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.

Maysoun Al Rushood1, Christine McCusker, Bruce Mazer, Reza Alizadehfar, Bodo Grimbacher, Mark Depner, Moshe Ben-Shoshan.   

Abstract

We report a family with autosomal dominant chronic mucocutaneous candidiasis as well as recurrent viral infections that segregate with a novel signal transducer and activator of transcription 1 (STAT1) mutation. Prophylactic treatment with fluconazole and immunoglobulin replacement has been initiated, with good clinical response.
Copyright © 2013 Mosby, Inc. All rights reserved.

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Year:  2013        PMID： 23541088     DOI： 10.1016/j.jpeds.2013.02.040

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  14 in total

Review 1.  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 2.  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

3.  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 4.  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

Review 5.  Primary immunodeficiency for the primary care provider.

Authors:  A W O'Keefe; M Halbrich; M Ben-Shoshan; C McCusker
Journal:  Paediatr Child Health       Date:  2016-03       Impact factor: 2.253

Review 6.  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

7.  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

8.  Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications.

Authors:  Marylin Desjardins; Marianne Béland; Marieme Dembele; Duncan Lejtenyi; Jean-Phillipe Drolet; Martine Lemire; Christos Tsoukas; Moshe Ben-Shoshan; Francisco J D Noya; Reza Alizadehfar; Christine T McCusker; Bruce D Mazer
Journal:  J Clin Immunol       Date:  2017-11-04       Impact factor: 8.317

Review 9.  Primary immunodeficiencies underlying fungal infections.

Authors:  Fanny Lanternier; Sophie Cypowyj; Capucine Picard; Jacinta Bustamante; Olivier Lortholary; Jean-Laurent Casanova; Anne Puel
Journal:  Curr Opin Pediatr       Date:  2013-12       Impact factor: 2.856

10.  Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Authors:  Romain Lévy; Satoshi Okada; Vivien Béziat; Kunihiko Moriya; Caini Liu; Louis Yi Ann Chai; Mélanie Migaud; Fabian Hauck; Amein Al Ali; Cyril Cyrus; Chittibabu Vatte; Turkan Patiroglu; Ekrem Unal; Marie Ferneiny; Nobuyuki Hyakuna; Serdar Nepesov; Matias Oleastro; Aydan Ikinciogullari; Figen Dogu; Takaki Asano; Osamu Ohara; Ling Yun; Erika Della Mina; Didier Bronnimann; Yuval Itan; Florian Gothe; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Natalia Tahuil; Caner Aytekin; Aicha Salhi; Saleh Al Muhsen; Masao Kobayashi; Julie Toubiana; Laurent Abel; Xiaoxia Li; Yildiz Camcioglu; Fatih Celmeli; Christoph Klein; Suzan A AlKhater; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-12-07       Impact factor: 12.779
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