Literature DB >> 30995379

Treatment Strategies for Deficiency of Adenosine Deaminase 2.

Amanda K Ombrello1, Jing Qin2, Patrycja M Hoffmann3, Parag Kumar4, Deborah Stone3, Anne Jones3, Tina Romeo3, Beverly Barham3, Gineth Pinto-Patarroyo3, Camilo Toro3, Ariane Soldatos5, Qing Zhou3, Natalie Deuitch3, Ivona Aksentijevich3, Sherry L Sheldon4, Susan Kelly6, Ada Man7, Karyl Barron2, Michael Hershfield6, Willy A Flegel4, Daniel L Kastner3.   

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Year:  2019        PMID： 30995379      PMCID： PMC7372950          DOI： 10.1056/NEJMc1801927

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


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  5 in total

1.  Deficiency of Adenosine Deaminase Type 2: A Description of Phenotype and Genotype in Fifteen Cases.

Authors:  Sira Nanthapisal; Claire Murphy; Ebun Omoyinmi; Ying Hong; Ariane Standing; Stefan Berg; Maria Ekelund; Stephen Jolles; Lorraine Harper; Taryn Youngstein; Kimberly Gilmour; Nigel J Klein; Despina Eleftheriou; Paul A Brogan
Journal:  Arthritis Rheumatol       Date:  2016-09       Impact factor: 10.995

2.  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

3.  ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study.

Authors:  Roberta Caorsi; Federica Penco; Alice Grossi; Antonella Insalaco; Alessia Omenetti; Maria Alessio; Giovanni Conti; Federico Marchetti; Paolo Picco; Alberto Tommasini; Silvana Martino; Clara Malattia; Romina Gallizi; Rosa Anna Podda; Annalisa Salis; Fernanda Falcini; Francesca Schena; Francesca Garbarino; Alessia Morreale; Manuela Pardeo; Claudia Ventrici; Chiara Passarelli; Qing Zhou; Mariasavina Severino; Carlo Gandolfo; Gianluca Damonte; Alberto Martini; Angelo Ravelli; Ivona Aksentijevich; Isabella Ceccherini; Marco Gattorno
Journal:  Ann Rheum Dis       Date:  2017-05-18       Impact factor: 19.103

4.  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

5.  Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2.

Authors:  Hasan Hashem; Ashish R Kumar; Ingo Müller; Florian Babor; Robbert Bredius; Jignesh Dalal; Amy P Hsu; Steven M Holland; Dennis D Hickstein; Stephen Jolles; Robert Krance; Ghadir Sasa; Mervi Taskinen; Minna Koskenvuo; Janna Saarela; Joris van Montfrans; Keith Wilson; Barbara Bosch; Leen Moens; Michael Hershfield; Isabelle Meyts
Journal:  Blood       Date:  2017-10-03       Impact factor: 22.113
  5 in total
  35 in total

Review 1.  Molecular mechanisms of phenotypic variability in monogenic autoinflammatory diseases.

Authors:  Ivona Aksentijevich; Oskar Schnappauf
Journal:  Nat Rev Rheumatol       Date:  2021-05-25       Impact factor: 20.543

Review 2.  Clinical Approach to Diagnosis and Therapy of Polyarteritis Nodosa.

Authors:  Alojzija Hočevar; Matija Tomšič; Katja Perdan Pirkmajer
Journal:  Curr Rheumatol Rep       Date:  2021-02-10       Impact factor: 4.592

3.  Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.

Authors:  Oskar Schnappauf; Qing Zhou; Natalia Sampaio Moura; Amanda K Ombrello; Drew G Michael; Natalie Deuitch; Karyl Barron; Deborah L Stone; Patrycja Hoffmann; Michael Hershfield; Carolyn Applegate; Hans T Bjornsson; David B Beck; P Dane Witmer; Nara Sobreira; Elizabeth Wohler; John A Chiorini; The American Genome Center; Clifton L Dalgard; Nih Intramural Sequencing Center; Daniel L Kastner; Ivona Aksentijevich
Journal:  J Clin Immunol       Date:  2020-07-08       Impact factor: 8.317

Review 4.  Monogenic autoinflammatory disorders: Conceptual overview, phenotype, and clinical approach.

Authors:  Peter A Nigrovic; Pui Y Lee; Hal M Hoffman
Journal:  J Allergy Clin Immunol       Date:  2020-11       Impact factor: 10.793

5.  ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes.

Authors:  Ayşe Tanatar; Şerife Gül Karadağ; Betül Sözeri; Hafize Emine Sönmez; Mustafa Çakan; Yasemin Kendir Demirkol; Nuray Aktay Ayaz
Journal:  J Clin Immunol       Date:  2019-12-17       Impact factor: 8.317

Review 6.  Polyarteritis nodosa and deficiency of adenosine deaminase 2 - Shared genealogy, generations apart.

Authors:  Zhengping Huang; Tianwang Li; Peter A Nigrovic; Pui Y Lee
Journal:  Clin Immunol       Date:  2020-04-07       Impact factor: 3.969

Review 7.  Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Ivona Aksentijevich; Qing Zhou
Journal:  Semin Immunopathol       Date:  2022-02-17       Impact factor: 9.623

Review 8.  Adenosine deaminase, not immune to a mechanistic rethink in central nervous system disorders?

Authors:  Benjamin Hall; Jonathan G George; Scott P Allen
Journal:  Histol Histopathol       Date:  2021-12-09       Impact factor: 2.303

9.  Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2).

Authors:  Pui Y Lee; Erinn S Kellner; Yuelong Huang; Elissa Furutani; Zhengping Huang; Wayne Bainter; Mohammed F Alosaimi; Kelsey Stafstrom; Craig D Platt; Tali Stauber; Somech Raz; Irit Tirosh; Aaron Weiss; Michael B Jordan; Christa Krupski; Despina Eleftheriou; Paul Brogan; Ali Sobh; Zeina Baz; Gerard Lefranc; Carla Irani; Sara S Kilic; Rasha El-Owaidy; M R Lokeshwar; Pallavi Pimpale; Raju Khubchandani; Eugene P Chambers; Janet Chou; Raif S Geha; Peter A Nigrovic; Qing Zhou
Journal:  J Allergy Clin Immunol       Date:  2020-01-13       Impact factor: 10.793

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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