Literature DB >> 30092289

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.

Lisa R Forbes1, Tiphanie P Vogel2, Megan A Cooper3, Johana Castro-Wagner4, Edith Schussler5, Katja G Weinacht6, Ashley S Plant7, Helen C Su8, Eric J Allenspach9, Mary Slatter10, Mario Abinun10, Desa Lilic10, Charlotte Cunningham-Rundles5, Olive Eckstein11, Peter Olbrich12, R Paul Guillerman13, Niraj C Patel14, Yesim Y Demirdag15, Christa Zerbe8, Alexandra F Freeman8, Steven M Holland8, Paul Szabolcs16, Andrew Gennery10, Troy R Torgerson9, Joshua D Milner17, Jennifer W Leiding18.   

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Year:  2018        PMID: 30092289      PMCID: PMC6322659          DOI: 10.1016/j.jaci.2018.07.020

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN: 0091-6749            Impact factor:   10.793


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  9 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 phase 1 dosing study of ruxolitinib in children with relapsed or refractory solid tumors, leukemias, or myeloproliferative neoplasms: A Children's Oncology Group phase 1 consortium study (ADVL1011).

Authors:  Mignon L Loh; Sarah K Tasian; Karen R Rabin; Patrick Brown; Daniel Magoon; Joel M Reid; Xuejun Chen; Charlotte H Ahern; Brenda J Weigel; Susan M Blaney
Journal:  Pediatr Blood Cancer       Date:  2015-05-13       Impact factor: 3.167

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.  Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.

Authors:  Jennifer W Leiding; Satoshi Okada; David Hagin; Mario Abinun; Anna Shcherbina; Dmitry N Balashov; Vy H D Kim; Adi Ovadia; Stephen L Guthery; Michael Pulsipher; Desa Lilic; Lisa A Devlin; Sharon Christie; Mark Depner; Sebastian Fuchs; Annet van Royen-Kerkhof; Caroline Lindemans; Aleksandra Petrovic; Kathleen E Sullivan; Nancy Bunin; Sara Sebnem Kilic; Fikret Arpaci; Oscar de la Calle-Martin; Laura Martinez-Martinez; Juan Carlos Aldave; Masao Kobayashi; Teppei Ohkawa; Kohsuke Imai; Akihiro Iguchi; Chaim M Roifman; Andrew R Gennery; Mary Slatter; Hans D Ochs; Tomohiro Morio; Troy R Torgerson
Journal:  J Allergy Clin Immunol       Date:  2017-06-07       Impact factor: 10.793

5.  Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.

Authors:  Joshua D Milner; Tiphanie P Vogel; Lisa Forbes; Chi A Ma; Asbjørg Stray-Pedersen; Julie E Niemela; Jonathan J Lyons; Karin R Engelhardt; Yu Zhang; Nermina Topcagic; Elisha D O Roberson; Helen Matthews; James W Verbsky; Trivikram Dasu; Alexander Vargas-Hernandez; Nidhy Varghese; Kenneth L McClain; Lina B Karam; Karen Nahmod; George Makedonas; Emily M Mace; Hanne S Sorte; Gøri Perminow; V Koneti Rao; Michael P O'Connell; Susan Price; Helen C Su; Morgan Butrick; Joshua McElwee; Jason D Hughes; Joseph Willet; David Swan; Yaobo Xu; Mauro Santibanez-Koref; Voytek Slowik; Darrell L Dinwiddie; Christina E Ciaccio; Carol J Saunders; Seth Septer; Stephen F Kingsmore; Andrew J White; Andrew J Cant; Sophie Hambleton; Megan A Cooper
Journal:  Blood       Date:  2014-10-30       Impact factor: 22.113

6.  Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations.

Authors:  Alexander Vargas-Hernández; Emily M Mace; Ofer Zimmerman; Christa S Zerbe; Alexandra F Freeman; Sergio Rosenzweig; Jennifer W Leiding; Troy Torgerson; Matthew C Altman; Edith Schussler; Charlotte Cunningham-Rundles; Ivan K Chinn; Alexandre F Carisey; Imelda C Hanson; Nicholas L Rider; Steven M Holland; Jordan S Orange; Lisa R Forbes
Journal:  J Allergy Clin Immunol       Date:  2017-10-27       Impact factor: 10.793

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 phase 2 study of ruxolitinib, an oral JAK1 and JAK2 Inhibitor, in patients with advanced polycythemia vera who are refractory or intolerant to hydroxyurea.

Authors:  Srdan Verstovsek; Francesco Passamonti; Alessandro Rambaldi; Giovanni Barosi; Peter J Rosen; Elisa Rumi; Elisabetta Gattoni; Lisa Pieri; Paola Guglielmelli; Chiara Elena; Shui He; Nancy Contel; Bijoyesh Mookerjee; Victor Sandor; Mario Cazzola; Hagop M Kantarjian; Tiziano Barbui; Alessandro M Vannucchi
Journal:  Cancer       Date:  2014-02-15       Impact factor: 6.860

9.  Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease.

Authors:  Sarah E Flanagan; Emma Haapaniemi; Mark A Russell; Richard Caswell; Hana Lango Allen; Elisa De Franco; Timothy J McDonald; Hanna Rajala; Anita Ramelius; John Barton; Kaarina Heiskanen; Tarja Heiskanen-Kosma; Merja Kajosaari; Nuala P Murphy; Tatjana Milenkovic; Mikko Seppänen; Åke Lernmark; Satu Mustjoki; Timo Otonkoski; Juha Kere; Noel G Morgan; Sian Ellard; Andrew T Hattersley
Journal:  Nat Genet       Date:  2014-07-20       Impact factor: 38.330

  9 in total
  62 in total

1.  Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.

Authors:  Stella P Hartono; Alexander Vargas-Hernández; Mark J Ponsford; Ivan K Chinn; Stephen Jolles; Keith Wilson; Lisa R Forbes
Journal:  J Clin Immunol       Date:  2018-10-13       Impact factor: 8.317

2.  Ruxolitinib in adult patients with secondary haemophagocytic lymphohistiocytosis: an open-label, single-centre, pilot trial.

Authors:  Asra Ahmed; Samuel A Merrill; Fares Alsawah; Paula Bockenstedt; Erica Campagnaro; Sumana Devata; Scott D Gitlin; Mark Kaminski; Alice Cusick; Tycel Phillips; Suman Sood; Moshe Talpaz; Albert Quiery; Philip S Boonstra; Ryan A Wilcox
Journal:  Lancet Haematol       Date:  2019-09-16       Impact factor: 18.959

3.  Primary immunodeficiencies: novel genes and unusual presentations.

Authors:  Luigi D Notarangelo; Gulbu Uzel; V Koneti Rao
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 4.  An appraisal of the Wilson & Jungner criteria in the context of genomic-based newborn screening for inborn errors of immunity.

Authors:  Jovanka R King; Luigi D Notarangelo; Lennart Hammarström
Journal:  J Allergy Clin Immunol       Date:  2021-02       Impact factor: 10.793

5.  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 6.  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 7.  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

Review 8.  Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.

Authors:  Paul J Maglione
Journal:  Immunol Allergy Clin North Am       Date:  2020-06-09       Impact factor: 3.479

Review 9.  Human inborn errors of immunity: An expanding universe.

Authors:  Luigi D Notarangelo; Rosa Bacchetta; Jean-Laurent Casanova; Helen C Su
Journal:  Sci Immunol       Date:  2020-07-10

Review 10.  Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.

Authors:  Emily S J Edwards; Julian J Bosco; Samar Ojaimi; Robyn E O'Hehir; Menno C van Zelm
Journal:  Cell Mol Immunol       Date:  2020-08-17       Impact factor: 11.530

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