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Literature DB >> 29226168

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease.

Ofer Zimmerman¹, Berenice Rösler², Christa S Zerbe¹, Lindsey B Rosen¹, Amy P Hsu¹, Gulbu Uzel¹, Alexandra F Freeman¹, Elizabeth P Sampaio¹, Sergio D Rosenzweig³, Hye Sun Kuehn³, Tiffany Kim⁴, Kristina M Brooks⁴, Parag Kumar⁴, Xiaowen Wang^2,5, Mihai G Netea², Frank L van de Veerdonk², Steven M Holland¹.

Abstract

Heterozygous STAT1 gain-of-function (GOF) mutations are associated with chronic mucocutaneous candidiasis and a broad spectrum of infectious, inflammatory, and vascular manifestations. We describe therapeutic failures with the Janus Kinase (JAK) inhibitor ruxolitinib in 2 STAT1 GOF patients with severe invasive or cutaneous fungal infections.

Entities: Chemical

Keywords: STAT1; coccidiomycosis; dermatophytosis; gain of function; ruxolitinib

Year: 2017 PMID： 29226168 PMCID： PMC5714179 DOI： 10.1093/ofid/ofx202

Source DB: PubMed Journal: Open Forum Infect Dis ISSN： 2328-8957 Impact factor: 3.835

18 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. Ruxolitinib is a potent immunosuppressive compound: is it time for anti-infective prophylaxis?

Authors: Annkristin Heine; Peter Brossart; Dominik Wolf
Journal: Blood Date: 2013-11-28 Impact factor: 22.113

3. A new alkaloid AM-2282 OF Streptomyces origin. Taxonomy, fermentation, isolation and preliminary characterization.

Authors: S Omura; Y Iwai; A Hirano; A Nakagawa; J Awaya; H Tsuchya; Y Takahashi; R Masuma
Journal: J Antibiot (Tokyo) Date: 1977-04 Impact factor: 2.649

4. 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

5. 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

6. Treatment of Experimental Candida Sepsis with a Janus Kinase Inhibitor Controls Inflammation and Prolongs Survival.

Authors: P Tsirigotis; N Papanikolaou; A Elefanti; P Konstantinou; K Gkirkas; D Rontogianni; N Siafakas; P Karakitsos; E Roilides; G Dimitriadis; L Zerva; J Meletiadis
Journal: Antimicrob Agents Chemother Date: 2015-09-14 Impact factor: 5.191

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. A study on the risk of fungal infection with tofacitinib (CP-690550), a novel oral agent for rheumatoid arthritis.

Authors: Yong Chen; Fang-Yuan Gong; Zhen-Jun Li; Zheng Gong; Zhe Zhou; Shu-Yan Ma; Xiao-Ming Gao
Journal: Sci Rep Date: 2017-07-28 Impact factor: 4.379

9. Risk Factors for Disseminated Coccidioidomycosis, United States.

Authors: Camila D Odio; Beatriz E Marciano; John N Galgiani; Steven M Holland
Journal: Emerg Infect Dis Date: 2017-02 Impact factor: 6.883

10. Staurosporine Induces Filamentation in the Human Fungal Pathogen Candida albicans via Signaling through Cyr1 and Protein Kinase A.

Authors: Jinglin L Xie; Teresa R O'Meara; Elizabeth J Polvi; Nicole Robbins; Leah E Cowen
Journal: mSphere Date: 2017-03-01 Impact factor: 4.389

14 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

2. JAK inhibition in a patient with a STAT1 gain-of-function variant reveals STAT1 dysregulation as a common feature of aplastic anemia.

Authors: Jacob M Rosenberg; Joshua M Peters; Travis Hughes; Caleb A Lareau; Leif S Ludwig; Lucas R Massoth; Christina Austin-Tse; Heidi L Rehm; Bryan Bryson; Yi-Bin Chen; Aviv Regev; Alex K Shalek; Sarah M Fortune; David B Sykes
Journal: Med (N Y) Date: 2022-01-14

3. Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations.

Authors: Pilar Blanco Lobo; Paloma Guisado-Hernández; Isabel Villaoslada; Beatriz de Felipe; Carmen Carreras; Hector Rodriguez; Begoña Carazo-Gallego; Ana Méndez-Echevarria; José Manuel Lucena; Pilar Ortiz Aljaro; María José Castro; José Francisco Noguera-Uclés; Joshua D Milner; Katelyn McCann; Ofer Zimmerman; Alexandra F Freeman; Michail S Lionakis; Steven M Holland; Olaf Neth; Peter Olbrich
Journal: J Clin Immunol Date: 2022-05-04 Impact factor: 8.542

Review 4. 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

5. Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation.

Authors: Markéta Bloomfield; Veronika Kanderová; Zuzana Paračková; Petra Vrabcová; Michael Svatoň; Eva Froňková; Martina Fejtková; Radana Zachová; Michal Rataj; Irena Zentsová; Tomáš Milota; Adam Klocperk; Tomáš Kalina; Anna Šedivá
Journal: J Clin Immunol Date: 2018-06-22 Impact factor: 8.317