Literature DB >> 29411230

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

Thomas F Michniacki1, Mark Hannibal2, Charles W Ross3, David G Frame4, Adam S DuVall5, Rami Khoriaty6, Mark T Vander Lugt7, Kelly J Walkovich7.   

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Year:  2018        PMID: 29411230     DOI: 10.1007/s10875-018-0480-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN: 0271-9142            Impact factor:   8.542


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  39 in total

1.  A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

Authors:  Ezgi Deniz Batu; Omer Karadag; Ekim Zihni Taskiran; Umut Kalyoncu; Ivona Aksentijevich; Mehmet Alikasifoglu; Seza Özen
Journal:  J Rheumatol       Date:  2015-08       Impact factor: 4.666

2.  Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa.

Authors:  Tania M Gonzalez Santiago; Andrey Zavialov; Janna Saarela; Mikko Seppanen; Ann M Reed; Roshini S Abraham; Lawrence E Gibson
Journal:  JAMA Dermatol       Date:  2015-11       Impact factor: 10.282

3.  Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.

Authors:  Joris M Van Montfrans; Esther A R Hartman; Kees P J Braun; Eric A M Hennekam; Elisabeth A Hak; Paul J Nederkoorn; Willeke F Westendorp; Robbert G M Bredius; Wouter J W Kollen; Elisabeth H Schölvinck; G Elizabeth Legger; Isabelle Meyts; Adrian Liston; Klaske D Lichtenbelt; Jacques C Giltay; Gijs Van Haaften; Gaby M De Vries Simons; Helen Leavis; Cornelis J G Sanders; Marc B Bierings; Stefan Nierkens; Marielle E Van Gijn
Journal:  Rheumatology (Oxford)       Date:  2016-02-10       Impact factor: 7.580

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.  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

6.  Identification and treatment of late onset Fanconi's anemia.

Authors:  A Zatterale; R Calzone; S Renda; L Catalano; C Selleri; R Notaro; B Rotoli
Journal:  Haematologica       Date:  1995 Nov-Dec       Impact factor: 9.941

7.  IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation.

Authors:  Florence Fellmann; Federica Angelini; Jacqueline Wassenberg; Matthieu Perreau; Natalia Arenas Ramirez; Gregoire Simon; Onur Boyman; Olivier Demaria; Stephanie Christen-Zaech; Daniel Hohl; Marco Belfiore; Annette von Scheven-Gete; Michel Gilliet; Pierre-Yves Bochud; Yannick Perrin; Maya Beck Popovic; Pierre-Alexandre Bart; Jacques S Beckmann; Danielle Martinet; Michaël Hofer
Journal:  J Allergy Clin Immunol       Date:  2015-11-20       Impact factor: 10.793

8.  Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Authors:  Tal Ben-Ami; Shoshana Revel-Vilk; Rebecca Brooks; Avraham Shaag; Michael S Hershfield; Susan J Kelly; Nancy J Ganson; Shlomit Kfir-Erenfeld; Michael Weintraub; Orly Elpeleg; Yackov Berkun; Polina Stepensky
Journal:  J Pediatr       Date:  2016-08-08       Impact factor: 4.406

9.  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

10.  ADA2 deficiency: case report of a new phenotype and novel mutation in two sisters.

Authors:  F Uettwiller; G Sarrabay; M P Rodero; G I Rice; E Lagrue; Y Marot; K Deiva; I Touitou; Y J Crow; P Quartier
Journal:  RMD Open       Date:  2016-05-16
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  19 in total

1.  Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.

Authors:  Herberto Jose Chong-Neto; Gesmar Rodrigues Silva Segundo; Márcia Bandeira; Débora Carla Chong-Silva; Cristine Secco Rosário; Carlos A Riedi; Michael S Hershfield; Hans Ochs; Troy Torgerson; Nelson Augusto Rosário
Journal:  J Clin Immunol       Date:  2019-10-15       Impact factor: 8.317

2.  A Chinese DADA2 patient: report of two novel mutations and successful HSCT.

Authors:  Luyao Liu; Wenjie Wang; Ying Wang; Jia Hou; Wenjing Ying; Xiaoying Hui; Qinhua Zhou; Danru Liu; Haili Yao; Jinqiao Sun; Xiaochuan Wang
Journal:  Immunogenetics       Date:  2019-01-05       Impact factor: 2.846

3.  Clinical Applications and Utility of a Precision Medicine Approach for Patients With Unexplained Cytopenias.

Authors:  Abhishek A Mangaonkar; Alejandro Ferrer; Filippo Pinto E Vairo; Margot A Cousin; Ryan J Kuisle; Naseema Gangat; William J Hogan; Mark R Litzow; Tammy M McAllister; Eric W Klee; Konstantinos N Lazaridis; A Keith Stewart; Mrinal M Patnaik
Journal:  Mayo Clin Proc       Date:  2019-06-27       Impact factor: 7.616

4.  Understanding neutropenia secondary to intrinsic or iatrogenic immune dysregulation.

Authors:  Kelly Walkovich; James A Connelly
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2021-12-10

Review 5.  Deficiency of Human Adenosine Deaminase Type 2 - A Diagnostic Conundrum for the Hematologist.

Authors:  Rakesh Kumar Pilania; Aaqib Zaffar Banday; Saniya Sharma; Rajni Kumrah; Vibhu Joshi; Sathish Loganathan; Manpreet Dhaliwal; Ankur Kumar Jindal; Pandiarajan Vignesh; Deepti Suri; Amit Rawat; Surjit Singh
Journal:  Front Immunol       Date:  2022-05-03       Impact factor: 8.786

Review 6.  Aplastic Anemia.

Authors:  Neal S Young
Journal:  N Engl J Med       Date:  2018-10-25       Impact factor: 91.245

7.  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 8.  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

9.  Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

Authors:  Carmelo Carmona-Rivera; Sami S Khaznadar; Kyawt W Shwin; Jorge A Irizarry-Caro; Liam J O'Neil; Yudong Liu; Kenneth A Jacobson; Amanda K Ombrello; Deborah L Stone; Wanxia L Tsai; Daniel L Kastner; Ivona Aksentijevich; Mariana J Kaplan; Peter C Grayson
Journal:  Blood       Date:  2019-04-23       Impact factor: 25.476

10.  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

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