Literature DB >> 27956386

Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea.

Chi A Ma1, Liqiang Xi2, Brian Cauff3, Adam DeZure4, Alexandra F Freeman5, Sophie Hambleton6, Gary Kleiner7, T Ronan Leahy8, Maureen O'Sullivan8, Michelle Makiya9, Grainne O'Regan8, Stefania Pittaluga2, Julie Niemela10, Jennifer Stoddard10, Sergio D Rosenzweig10, Mark Raffeld2, Amy D Klion9, Joshua D Milner1.   

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Year:  2016        PMID: 27956386      PMCID: PMC5290989          DOI: 10.1182/blood-2016-09-737817

Source DB:  PubMed          Journal:  Blood        ISSN: 0006-4971            Impact factor:   22.113


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  13 in total

1.  Distinct effects of STAT5 activation on CD4+ and CD8+ T cell homeostasis: development of CD4+CD25+ regulatory T cells versus CD8+ memory T cells.

Authors:  Matthew A Burchill; Christine A Goetz; Martin Prlic; Jennifer J O'Neil; Ian R Harmon; Steven J Bensinger; Laurence A Turka; Paul Brennan; Stephen C Jameson; Michael A Farrar
Journal:  J Immunol       Date:  2003-12-01       Impact factor: 5.422

2.  Somatic STAT3 mutations in large granular lymphocytic leukemia.

Authors:  Hanna L M Koskela; Samuli Eldfors; Pekka Ellonen; Arjan J van Adrichem; Heikki Kuusanmäki; Emma I Andersson; Sonja Lagström; Michael J Clemente; Thomas Olson; Sari E Jalkanen; Muntasir Mamun Majumder; Henrikki Almusa; Henrik Edgren; Maija Lepistö; Pirkko Mattila; Kathryn Guinta; Pirjo Koistinen; Taru Kuittinen; Kati Penttinen; Alun Parsons; Jonathan Knowles; Janna Saarela; Krister Wennerberg; Olli Kallioniemi; Kimmo Porkka; Thomas P Loughran; Caroline A Heckman; Jaroslaw P Maciejewski; Satu Mustjoki
Journal:  N Engl J Med       Date:  2012-05-17       Impact factor: 91.245

3.  Novel activating STAT5B mutations as putative drivers of T-cell acute lymphoblastic leukemia.

Authors:  M Kontro; H Kuusanmäki; S Eldfors; T Burmeister; E I Andersson; O Bruserud; T H Brümmendorf; H Edgren; B T Gjertsen; M Itälä-Remes; S Lagström; O Lohi; T Lundán; J M L Martí; M M Majumder; A Parsons; T Pemovska; H Rajala; K Vettenranta; O Kallioniemi; S Mustjoki; K Porkka; C A Heckman
Journal:  Leukemia       Date:  2014-02-27       Impact factor: 11.528

4.  Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

Authors:  Emma M Haapaniemi; Meri Kaustio; Hanna L M Rajala; Arjan J van Adrichem; Leena Kainulainen; Virpi Glumoff; Rainer Doffinger; Heikki Kuusanmäki; Tarja Heiskanen-Kosma; Luca Trotta; Samuel Chiang; Petri Kulmala; Samuli Eldfors; Riku Katainen; Sanna Siitonen; Marja-Liisa Karjalainen-Lindsberg; Panu E Kovanen; Timo Otonkoski; Kimmo Porkka; Kaarina Heiskanen; Arno Hänninen; Yenan T Bryceson; Raija Uusitalo-Seppälä; Janna Saarela; Mikko Seppänen; Satu Mustjoki; Juha Kere
Journal:  Blood       Date:  2014-10-27       Impact factor: 22.113

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.  Discovery of somatic STAT5b mutations in large granular lymphocytic leukemia.

Authors:  Hanna L M Rajala; Samuli Eldfors; Heikki Kuusanmäki; Arjan J van Adrichem; Thomas Olson; Sonja Lagström; Emma I Andersson; Andres Jerez; Michael J Clemente; Yiyi Yan; Dan Zhang; Andy Awwad; Pekka Ellonen; Olli Kallioniemi; Krister Wennerberg; Kimmo Porkka; Jaroslaw P Maciejewski; Thomas P Loughran; Caroline Heckman; Satu Mustjoki
Journal:  Blood       Date:  2013-04-17       Impact factor: 22.113

7.  Frequent STAT5B mutations in γδ hepatosplenic T-cell lymphomas.

Authors:  A Nicolae; L Xi; S Pittaluga; Z Abdullaev; S D Pack; J Chen; T A Waldmann; E S Jaffe; M Raffeld
Journal:  Leukemia       Date:  2014-06-20       Impact factor: 11.528

8.  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

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

10.  Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas.

Authors:  A Nicolae; L Xi; T H Pham; T-A Pham; W Navarro; H G Meeker; S Pittaluga; E S Jaffe; M Raffeld
Journal:  Leukemia       Date:  2016-06-22       Impact factor: 11.528

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  21 in total

Review 1.  Mast cell activation in the context of elevated basal serum tryptase: genetics and presentations.

Authors:  Paneez Khoury; Jonathan J Lyons
Journal:  Curr Allergy Asthma Rep       Date:  2019-11-27       Impact factor: 4.806

2.  Human signal transducer and activator of transcription 5b (STAT5b) mutation causes dysregulated human natural killer cell maturation and impaired lytic function.

Authors:  Alexander Vargas-Hernández; Agnieszka Witalisz-Siepracka; Michaela Prchal-Murphy; Klara Klein; Sanjana Mahapatra; Waleed Al-Herz; Emily M Mace; Alexandre F Carisey; Jordan S Orange; Veronika Sexl; Lisa R Forbes
Journal:  J Allergy Clin Immunol       Date:  2019-10-07       Impact factor: 10.793

Review 3.  The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Authors:  Frédéric Rieux-Laucat; Aude Magérus-Chatinet; Bénédicte Neven
Journal:  J Clin Immunol       Date:  2018-06-17       Impact factor: 8.317

4.  The neonatal microenvironment programs innate γδ T cells through the transcription factor STAT5.

Authors:  Darshana Kadekar; Rasmus Agerholm; John Rizk; Heidi A Neubauer; Tobias Suske; Barbara Maurer; Monica Torrellas Viñals; Elena M Comelli; Amel Taibi; Richard Moriggl; Vasileios Bekiaris
Journal:  J Clin Invest       Date:  2020-05-01       Impact factor: 14.808

Review 5.  Incomplete penetrance in primary immunodeficiency: a skeleton in the closet.

Authors:  Conor Gruber; Dusan Bogunovic
Journal:  Hum Genet       Date:  2020-02-17       Impact factor: 4.132

Review 6.  The Impact of Immunodeficiency on NK Cell Maturation and Function.

Authors:  Alexander Vargas-Hernández; Lisa R Forbes
Journal:  Curr Allergy Asthma Rep       Date:  2019-01-19       Impact factor: 4.806

Review 7.  Inborn errors of immunity with atopic phenotypes: A practical guide for allergists.

Authors:  Riccardo Castagnoli; Vassilios Lougaris; Giuliana Giardino; Stefano Volpi; Lucia Leonardi; Francesco La Torre; Silvia Federici; Stefania Corrente; Bianca Laura Cinicola; Annarosa Soresina; Caterina Cancrini; Gian Luigi Marseglia; Fabio Cardinale
Journal:  World Allergy Organ J       Date:  2021-02-22       Impact factor: 4.084

8.  Stat5B is required for IgE-Mediated mast cell function in vitro and in vivo.

Authors:  Kasalina N Kiwanuka; E Motunrayo Kolawole; Jamie Josephine Avila Mcleod; Bianca Baker; Patrick A Paez; Matthew P Zellner; Tamara T Haque; Anuya Paranjape; Kaitlyn Jackson; Sydney A Kee; Jordan Dailey; Rebecca K Martin; John J Ryan
Journal:  Cell Immunol       Date:  2021-03-18       Impact factor: 4.178

9.  JAK inhibition in early-onset somatic, nonclonal STAT5B gain-of-function disease.

Authors:  Rachel Eisenberg; Melissa D Gans; Timothy Ronan Leahy; Florian Gothe; Candice Perry; Mark Raffeld; Liqiang Xi; Sarah Blackstone; Chi Ma; Sophie Hambleton; Joshua D Milner
Journal:  J Allergy Clin Immunol Pract       Date:  2020-12-05

Review 10.  Untwining Anti-Tumor and Immunosuppressive Effects of JAK Inhibitors-A Strategy for Hematological Malignancies?

Authors:  Klara Klein; Dagmar Stoiber; Veronika Sexl; Agnieszka Witalisz-Siepracka
Journal:  Cancers (Basel)       Date:  2021-05-26       Impact factor: 6.639

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