Literature DB >> 22402565

A patient with tyrosine kinase 2 deficiency without hyper-IgE syndrome.

Sara S Kilic1, Mustafa Hacimustafaoglu, Stéphanie Boisson-Dupuis, Alexandra Y Kreins, Audrey V Grant, Laurent Abel, Jean-Laurent Casanova.   

Abstract

We describe a Turkish patient with tyrosine kinase 2 deficiency who suffered from disseminated Bacille Calmette-Guerin infection, neurobrucellosis, and cutaneous herpes zoster infection. Tyrosine kinase 2 deficiency should be considered in patients susceptible to herpes viruses and intramacrophage pathogens even in the absence of atopy, high serum IgE, and staphylococcal disease.
Copyright © 2012 Mosby, Inc. All rights reserved.

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22402565      PMCID： PMC3360808          DOI： 10.1016/j.jpeds.2012.01.056

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


  10 in total

1.  Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome.

Authors:  Yoshiyuki Minegishi; Masako Saito; Shigeru Tsuchiya; Ikuya Tsuge; Hidetoshi Takada; Toshiro Hara; Nobuaki Kawamura; Tadashi Ariga; Srdjan Pasic; Oliver Stojkovic; Ayse Metin; Hajime Karasuyama
Journal:  Nature       Date:  2007-08-05       Impact factor: 49.962

Review 2.  Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Authors:  Orchidée Filipe-Santos; Jacinta Bustamante; Ariane Chapgier; Guillaume Vogt; Ludovic de Beaucoudrey; Jacqueline Feinberg; Emmanuelle Jouanguy; Stéphanie Boisson-Dupuis; Claire Fieschi; Capucine Picard; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2006-09-25       Impact factor: 11.130

3.  STAT3 mutations in the hyper-IgE syndrome.

Authors:  Steven M Holland; Frank R DeLeo; Houda Z Elloumi; Amy P Hsu; Gulbu Uzel; Nina Brodsky; Alexandra F Freeman; Andrew Demidowich; Joie Davis; Maria L Turner; Victoria L Anderson; Dirk N Darnell; Pamela A Welch; Douglas B Kuhns; David M Frucht; Harry L Malech; John I Gallin; Scott D Kobayashi; Adeline R Whitney; Jovanka M Voyich; James M Musser; Cristina Woellner; Alejandro A Schäffer; Jennifer M Puck; Bodo Grimbacher
Journal:  N Engl J Med       Date:  2007-09-19       Impact factor: 91.245

4.  Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity.

Authors:  Yoshiyuki Minegishi; Masako Saito; Tomohiro Morio; Ken Watanabe; Kazunaga Agematsu; Shigeru Tsuchiya; Hidetoshi Takada; Toshiro Hara; Nobuaki Kawamura; Tadashi Ariga; Hideo Kaneko; Naomi Kondo; Ikuya Tsuge; Akihiro Yachie; Yukio Sakiyama; Tsutomu Iwata; Fumio Bessho; Tsutomu Ohishi; Kosuke Joh; Kohsuke Imai; Kazuhiro Kogawa; Miwa Shinohara; Mikiya Fujieda; Hiroshi Wakiguchi; Srdjan Pasic; Mario Abinun; Hans D Ochs; Eleonore D Renner; Annette Jansson; Bernd H Belohradsky; Ayse Metin; Norio Shimizu; Shuki Mizutani; Toshio Miyawaki; Shigeaki Nonoyama; Hajime Karasuyama
Journal:  Immunity       Date:  2006-11       Impact factor: 31.745

Review 5.  Human tyk2 kinase deficiency: another primary immunodeficiency syndrome.

Authors:  Wendy T Watford; John J O'Shea
Journal:  Immunity       Date:  2006-11       Impact factor: 31.745

6.  Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Authors:  Karin R Engelhardt; Sean McGhee; Sabine Winkler; Atfa Sassi; Cristina Woellner; Gabriela Lopez-Herrera; Andrew Chen; Hong Sook Kim; Maria Garcia Lloret; Ilka Schulze; Stephan Ehl; Jens Thiel; Dietmar Pfeifer; Hendrik Veelken; Tim Niehues; Kathrin Siepermann; Sebastian Weinspach; Ismail Reisli; Sevgi Keles; Ferah Genel; Necil Kutukculer; Necil Kutuculer; Yildiz Camcioğlu; Ayper Somer; Elif Karakoc-Aydiner; Isil Barlan; Andrew Gennery; Ayse Metin; Aydan Degerliyurt; Maria C Pietrogrande; Mehdi Yeganeh; Zeina Baz; Salem Al-Tamemi; Christoph Klein; Jennifer M Puck; Steven M Holland; Edward R B McCabe; Bodo Grimbacher; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2009-12       Impact factor: 10.793

7.  Neurobrucellosis: an evaluation of a rare presentation of brucellosis from a tertiary care centre in Central Anatolia, Turkey.

Authors:  Hayati Demiraslan; Gokhan Metan; Emine Alp Mese; Orhan Yildiz; Bilgehan Aygen; Bulent Sumerkan; Mehmet Doganay
Journal:  Trop Doct       Date:  2009-10       Impact factor: 0.731

Review 8.  Human primary immunodeficiencies of type I interferons.

Authors:  Emmanuelle Jouanguy; Shen-Ying Zhang; Ariane Chapgier; Vanessa Sancho-Shimizu; Anne Puel; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Biochimie       Date:  2007-05-08       Impact factor: 4.079

9.  DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.

Authors:  Katrina L Randall; Stephanie S-Y Chan; Cindy S Ma; Ivan Fung; Yan Mei; Mehmet Yabas; Andy Tan; Peter D Arkwright; Wafaa Al Suwairi; Saul Oswaldo Lugo Reyes; Marco A Yamazaki-Nakashimada; Maria de la Luz Garcia-Cruz; Joanne M Smart; Capucine Picard; Satoshi Okada; Emmanuelle Jouanguy; Jean-Laurent Casanova; Teresa Lambe; Richard J Cornall; Sarah Russell; Jane Oliaro; Stuart G Tangye; Edward M Bertram; Christopher C Goodnow
Journal:  J Exp Med       Date:  2011-10-17       Impact factor: 14.307

10.  Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.

Authors:  Claire Fieschi; Stéphanie Dupuis; Emilie Catherinot; Jacqueline Feinberg; Jacinta Bustamante; Adrien Breiman; Frédéric Altare; Richard Baretto; Françoise Le Deist; Samer Kayal; Hartmut Koch; Darko Richter; Martin Brezina; Guzide Aksu; Phil Wood; Suliman Al-Jumaah; Miquel Raspall; Alberto José Da Silva Duarte; David Tuerlinckx; Jean-Louis Virelizier; Alain Fischer; Andrea Enright; Jutta Bernhöft; Aileen M Cleary; Christiane Vermylen; Carlos Rodriguez-Gallego; Graham Davies; Renate Blütters-Sawatzki; Claire-Anne Siegrist; Mohammad S Ehlayel; Vas Novelli; Walther H Haas; Jacob Levy; Joachim Freihorst; Sami Al-Hajjar; David Nadal; Dewton De Moraes Vasconcelos; Olle Jeppsson; Necil Kutukculer; Klara Frecerova; Isabel Caragol; David Lammas; Dinakantha S Kumararatne; Laurent Abel; Jean-Laurent Casanova
Journal:  J Exp Med       Date:  2003-02-17       Impact factor: 14.307
  10 in total
  44 in total

1.  Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

Authors:  Cindy S Ma; Danielle T Avery; Anna Chan; Marcel Batten; Jacinta Bustamante; Stephanie Boisson-Dupuis; Peter D Arkwright; Alexandra Y Kreins; Diana Averbuch; Dan Engelhard; Klaus Magdorf; Sara S Kilic; Yoshiyuki Minegishi; Shigeaki Nonoyama; Martyn A French; Sharon Choo; Joanne M Smart; Jane Peake; Melanie Wong; Paul Gray; Matthew C Cook; David A Fulcher; Jean-Laurent Casanova; Elissa K Deenick; Stuart G Tangye
Journal:  Blood       Date:  2012-03-08       Impact factor: 22.113

2.  Microarray analysis of Mycobacterium tuberculosis-infected monocytes reveals IL26 as a new candidate gene for tuberculosis susceptibility.

Authors:  José M Guerra-Laso; Sara Raposo-García; Silvia García-García; Cristina Diez-Tascón; Octavio M Rivero-Lezcano
Journal:  Immunology       Date:  2015-02       Impact factor: 7.397

3.  Germline activating TYK2 mutations in pediatric patients with two primary acute lymphoblastic leukemia occurrences.

Authors:  E Waanders; B Scheijen; M C J Jongmans; H Venselaar; S V van Reijmersdal; A H A van Dijk; A Pastorczak; R D A Weren; C E van der Schoot; M van de Vorst; E Sonneveld; N Hoogerbrugge; V H J van der Velden; B Gruhn; P M Hoogerbrugge; J J M van Dongen; A Geurts van Kessel; F N van Leeuwen; R P Kuiper
Journal:  Leukemia       Date:  2016-10-13       Impact factor: 11.528

4.  Mutations in the TLR3 signaling pathway and beyond in adult patients with herpes simplex encephalitis.

Authors:  N Mørk; E Kofod-Olsen; K B Sørensen; E Bach; T F Ørntoft; L Østergaard; S R Paludan; M Christiansen; T H Mogensen
Journal:  Genes Immun       Date:  2015-10-29       Impact factor: 2.676

Review 5.  Update on Janus kinase antagonists in inflammatory bowel disease.

Authors:  Brigid S Boland; William J Sandborn; John T Chang
Journal:  Gastroenterol Clin North Am       Date:  2014-06-24       Impact factor: 3.806

Review 6.  The JAK-STAT pathway: impact on human disease and therapeutic intervention.

Authors:  John J O'Shea; Daniella M Schwartz; Alejandro V Villarino; Massimo Gadina; Iain B McInnes; Arian Laurence
Journal:  Annu Rev Med       Date:  2015       Impact factor: 13.739

Review 7.  Mendelian susceptibility to mycobacterial disease: recent discoveries.

Authors:  Jacinta Bustamante
Journal:  Hum Genet       Date:  2020-02-05       Impact factor: 4.132

8.  Intestinal Epithelial Cell Tyrosine Kinase 2 Transduces IL-22 Signals To Protect from Acute Colitis.

Authors:  Eva Hainzl; Silvia Stockinger; Isabella Rauch; Susanne Heider; David Berry; Caroline Lassnig; Clarissa Schwab; Felix Rosebrock; Gabriel Milinovich; Michaela Schlederer; Michael Wagner; Christa Schleper; Alexander Loy; Tim Urich; Lukas Kenner; Xiaonan Han; Thomas Decker; Birgit Strobl; Mathias Müller
Journal:  J Immunol       Date:  2015-10-02       Impact factor: 5.422

Review 9.  Primary immunodeficiency update: Part I. Syndromes associated with eczematous dermatitis.

Authors:  Dominique C Pichard; Alexandra F Freeman; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2015-09       Impact factor: 11.527

Review 10.  Molecular mechanisms of mucocutaneous immunity against Candida and Staphylococcus species.

Authors:  László Maródi; Sophie Cypowyj; Beáta Tóth; Liudmyla Chernyshova; Anne Puel; Jean-Laurent Casanova
Journal:  J Allergy Clin Immunol       Date:  2012-10-03       Impact factor: 10.793
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.