Literature DB >> 26233953

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

Ezgi Deniz Batu1, Omer Karadag2, Ekim Zihni Taskiran3, Umut Kalyoncu2, Ivona Aksentijevich4, Mehmet Alikasifoglu5, Seza Özen6.   

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Year:  2015        PMID： 26233953     DOI： 10.3899/jrheum.150024

Source DB:  PubMed          Journal:  J Rheumatol        ISSN： 0315-162X            Impact factor:   4.666


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  34 in total

1.  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

2.  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 3.  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 4.  What's new in autoinflammation?

Authors:  Seza Ozen
Journal:  Pediatr Nephrol       Date:  2018-12-14       Impact factor: 3.714

5.  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

Review 6.  The changing face of polyarteritis nodosa and necrotizing vasculitis.

Authors:  Seza Ozen
Journal:  Nat Rev Rheumatol       Date:  2017-05-11       Impact factor: 20.543

7.  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

8.  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

9.  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 10.  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
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