Literature DB >> 25075847

Mutant ADA2 in vasculopathies.

Jose Bras, Rita Guerreiro, Gustavo C Santo.   

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Year:  2014        PMID: 25075847     DOI: 10.1056/NEJMc1405506

Source DB:  PubMed          Journal:  N Engl J Med        ISSN: 0028-4793            Impact factor:   91.245


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  17 in total

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

Authors:  Fabiano de Oliveira Poswar; Raymundo Mesko Tomkowski da Fonseca; Leonardo Cordenonzi Pedroso de Albuquerque; Qing Zhou; Laura Bannach Jardim; Thais Lampert Monte; Ivona Aksentijevich; Jonas Alex Morales Saute
Journal:  J Neurol       Date:  2016-02-25       Impact factor: 4.849

Review 2.  Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Authors:  Ivona Aksentijevich
Journal:  Semin Immunopathol       Date:  2015-04-10       Impact factor: 9.623

3.  Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants.

Authors:  Menno D Stellingwerff; Corinne Nulton; Guy Helman; Stefan D Roosendaal; William S Benko; Amy Pizzino; Marianna Bugiani; Adeline Vanderver; Cas Simons; Marjo S van der Knaap
Journal:  Neuropediatrics       Date:  2022-02-23       Impact factor: 1.696

4.  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

5.  Early-onset stroke, polyarteritis nodosa (PAN), and livedo racemosa.

Authors:  Dominique C Pichard; Amanda K Ombrello; Patrycja Hoffmann; Deborah L Stone; Edward W Cowen
Journal:  J Am Acad Dermatol       Date:  2016-08       Impact factor: 11.527

Review 6.  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

7.  Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.

Authors:  A F Geraldo; R Caorsi; D Tortora; C Gandolfo; R Ammendola; M Alessio; G Conti; A Insalaco; S Pastore; S Martino; I Ceccherini; S Signa; M Gattorno; A Rossi; M Severino
Journal:  AJNR Am J Neuroradiol       Date:  2021-02-25       Impact factor: 3.825

8.  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

9.  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

10.  Plasma Adenosine Deaminase (ADA)-1 and -2 Demonstrate Robust Ontogeny Across the First Four Months of Human Life.

Authors:  Oludare A Odumade; Alec L Plotkin; Jensen Pak; Olubukola T Idoko; Matthew A Pettengill; Tobias R Kollmann; Al Ozonoff; Beate Kampmann; Ofer Levy; Kinga K Smolen
Journal:  Front Immunol       Date:  2021-05-27       Impact factor: 7.561

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