Literature DB >> 26914925

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

Fabiano de Oliveira Poswar1, Raymundo Mesko Tomkowski da Fonseca2, Leonardo Cordenonzi Pedroso de Albuquerque2, Qing Zhou3, Laura Bannach Jardim1,4,5, Thais Lampert Monte2,5, Ivona Aksentijevich3, Jonas Alex Morales Saute6,7.   

Abstract

Entities:  

Mesh:

Substances:

Year:  2016        PMID: 26914925     DOI: 10.1007/s00415-016-8070-y

Source DB:  PubMed          Journal:  J Neurol        ISSN: 0340-5354            Impact factor:   4.849


× No keyword cloud information.
  8 in total

1.  Mutant ADA2 in vasculopathies.

Authors:  Jose Bras; Rita Guerreiro; Gustavo C Santo
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

2.  Mutant ADA2 in vasculopathies.

Authors:  Lien Van Eyck; Adrian Liston; Carine Wouters
Journal:  N Engl J Med       Date:  2014-07-31       Impact factor: 91.245

3.  Early-onset stroke and vasculopathy associated with mutations in ADA2.

Authors:  Qing Zhou; Dan Yang; Amanda K Ombrello; Andrey V Zavialov; Camilo Toro; Anton V Zavialov; Deborah L Stone; Jae Jin Chae; Sergio D Rosenzweig; Kevin Bishop; Karyl S Barron; Hye Sun Kuehn; Patrycja Hoffmann; Alejandra Negro; Wanxia L Tsai; Edward W Cowen; Wuhong Pei; Joshua D Milner; Christopher Silvin; Theo Heller; David T Chin; Nicholas J Patronas; John S Barber; Chyi-Chia R Lee; Geryl M Wood; Alexander Ling; Susan J Kelly; David E Kleiner; James C Mullikin; Nancy J Ganson; Heidi H Kong; Sophie Hambleton; Fabio Candotti; Martha M Quezado; Katherine R Calvo; Hawwa Alao; Beverly K Barham; Anne Jones; James F Meschia; Bradford B Worrall; Scott E Kasner; Stephen S Rich; Raphaela Goldbach-Mansky; Mario Abinun; Elizabeth Chalom; Alisa C Gotte; Marilynn Punaro; Virginia Pascual; James W Verbsky; Troy R Torgerson; Nora G Singer; Timothy R Gershon; Seza Ozen; Omer Karadag; Thomas A Fleisher; Elaine F Remmers; Shawn M Burgess; Susan L Moir; Massimo Gadina; Raman Sood; Michael S Hershfield; Manfred Boehm; Daniel L Kastner; Ivona Aksentijevich
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

4.  Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.

Authors:  Willeke F Westendorp; Paul J Nederkoorn; Ivona Aksentijevich; A Elisabeth Hak; Klaske D Lichtenbelt; Kees P J Braun
Journal:  Neurology       Date:  2015-04-17       Impact factor: 9.910

5.  Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy.

Authors:  Paulina Navon Elkan; Sarah B Pierce; Reeval Segel; Tom Walsh; Judith Barash; Shai Padeh; Abraham Zlotogorski; Yackov Berkun; Joseph J Press; Masha Mukamel; Isabel Voth; Philip J Hashkes; Liora Harel; Vered Hoffer; Eduard Ling; Fatos Yalcinkaya; Ozgur Kasapcopur; Ming K Lee; Rachel E Klevit; Paul Renbaum; Ariella Weinberg-Shukron; Elif F Sener; Barbara Schormair; Sharon Zeligson; Dina Marek-Yagel; Tim M Strom; Mordechai Shohat; Amihood Singer; Alan Rubinow; Elon Pras; Juliane Winkelmann; Mustafa Tekin; Yair Anikster; Mary-Claire King; Ephrat Levy-Lahad
Journal:  N Engl J Med       Date:  2014-02-19       Impact factor: 91.245

Review 6.  New players driving inflammation in monogenic autoinflammatory diseases.

Authors:  Fabio Martinon; Ivona Aksentijevich
Journal:  Nat Rev Rheumatol       Date:  2014-09-23       Impact factor: 20.543

7.  Mutations in CECR1 associated with a neutrophil signature in peripheral blood.

Authors:  Alexandre Belot; Evangeline Wassmer; Marinka Twilt; Jean-Christophe Lega; Leo Ah Zeef; Anthony Oojageer; Paul R Kasher; Anne-Laure Mathieu; Christophe Malcus; Julie Demaret; Nicole Fabien; Sophie Collardeau-Frachon; Laura Mechtouff; Laurent Derex; Thierry Walzer; Gillian I Rice; Isabelle Durieu; Yanick J Crow
Journal:  Pediatr Rheumatol Online J       Date:  2014-09-24       Impact factor: 3.054

8.  Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

Authors:  Lien Van Eyck; Michael S Hershfield; Diana Pombal; Susan J Kelly; Nancy J Ganson; Leen Moens; Glynis Frans; Heidi Schaballie; Gert De Hertogh; James Dooley; Xavier Bossuyt; Carine Wouters; Adrian Liston; Isabelle Meyts
Journal:  J Allergy Clin Immunol       Date:  2014-11-25       Impact factor: 10.793

  8 in total
  8 in total

1.  A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.

Authors:  Mélanie Rama; Claire Duflos; Isabelle Melki; Didier Bessis; Axelle Bonhomme; Hélène Martin; Diane Doummar; Stéphanie Valence; Diana Rodriguez; Emilie Carme; David Genevieve; Ketil Heimdal; Antonella Insalaco; Nathalie Franck; Viviane Queyrel-Moranne; Nathalie Tieulie; Jonathan London; Florence Uettwiller; Sophie Georgin-Lavialle; Alexandre Belot; Isabelle Koné-Paut; Véronique Hentgen; Guilaine Boursier; Isabelle Touitou; Guillaume Sarrabay
Journal:  Eur J Hum Genet       Date:  2018-04-23       Impact factor: 4.246

2.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

Authors:  Sezgin Sahin; Amra Adrovic; Kenan Barut; Serdal Ugurlu; Eda Tahir Turanli; Huri Ozdogan; Ozgur Kasapcopur
Journal:  Rheumatol Int       Date:  2017-05-17       Impact factor: 2.631

Review 3.  Deficiency of Adenosine Deaminase 2 (DADA2), an Inherited Cause of Polyarteritis Nodosa and a Mimic of Other Systemic Rheumatologic Disorders.

Authors:  Hasan Hashem; Susan J Kelly; Nancy J Ganson; Michael S Hershfield
Journal:  Curr Rheumatol Rep       Date:  2017-10-05       Impact factor: 4.592

Review 4.  Vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes.

Authors:  Avinash Jain; Durga Prasanna Misra; Aman Sharma; Anupam Wakhlu; Vikas Agarwal; Vir Singh Negi
Journal:  Rheumatol Int       Date:  2017-10-14       Impact factor: 3.580

5.  Warts and DADA2: a Mere Coincidence?

Authors:  Katrijn Arts; Jenna R E Bergerson; Amanda K Ombrello; Morgan Similuk; Andrew J Oler; Anahita Agharahimi; Emily M Mace; Mike Hershfield; Carine Wouters; Lien De Somer; Marie-Anne Morren; Rebeca Perez-de Diego; Leen Moens; Alexandra F Freeman; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2018-11-01       Impact factor: 8.542

6.  Hematologic Manifestations of Deficiency of Adenosine Deaminase 2 (DADA2) and Response to Tumor Necrosis Factor Inhibition in DADA2-Associated Bone Marrow Failure.

Authors:  Thomas F Michniacki; Mark Hannibal; Charles W Ross; David G Frame; Adam S DuVall; Rami Khoriaty; Mark T Vander Lugt; Kelly J Walkovich
Journal:  J Clin Immunol       Date:  2018-02-06       Impact factor: 8.542

Review 7.  Vasculopathy, Immunodeficiency, and Bone Marrow Failure: The Intriguing Syndrome Caused by Deficiency of Adenosine Deaminase 2.

Authors:  Pui Y Lee
Journal:  Front Pediatr       Date:  2018-10-18       Impact factor: 3.418

Review 8.  Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Authors:  Isabelle Meyts; Ivona Aksentijevich
Journal:  J Clin Immunol       Date:  2018-06-27       Impact factor: 8.317

  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.