Literature DB >> 25888558

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

Willeke F Westendorp1, Paul J Nederkoorn2, Ivona Aksentijevich2, A Elisabeth Hak2, Klaske D Lichtenbelt2, Kees P J Braun2.   

Abstract

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Year:  2015        PMID： 25888558      PMCID： PMC4442100          DOI： 10.1212/WNL.0000000000001581

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  2 in total

1.  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

2.  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
  2 in total
  18 in total

1.  Childhood Hodgkin Lymphoma: Think DADA2.

Authors:  Fahad Alabbas; Ghaleb Elyamany; Omar Alsharif; Michael Hershfield; Isabelle Meyts
Journal:  J Clin Immunol       Date:  2019-01-14       Impact factor: 8.317

2.  Deficiency of Adenosine Deaminase 2 Causes Antibody Deficiency.

Authors:  Johanna Schepp; Alla Bulashevska; Wilma Mannhardt-Laakmann; Hongzhi Cao; Fang Yang; Maximilian Seidl; Susan Kelly; Michael Hershfield; Bodo Grimbacher
Journal:  J Clin Immunol       Date:  2016-02-27       Impact factor: 8.317

3.  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

4.  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

Review 5.  Emerging insights from the genetics of cerebral small-vessel disease.

Authors:  Loes C A Rutten-Jacobs; Natalia S Rost
Journal:  Ann N Y Acad Sci       Date:  2019-01-08       Impact factor: 5.691

6.  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

7.  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 8.  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

9.  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

Review 10.  Expanding spectrum of DADA2: a review of phenotypes, genetics, pathogenesis and treatment.

Authors:  Benzeeta Pinto; Prateek Deo; Susmita Sharma; Arshi Syal; Aman Sharma
Journal:  Clin Rheumatol       Date:  2021-03-31       Impact factor: 2.980
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