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Literature DB >> 31617030

Homozygous Splice ADA2 Gene Mutation Causing ADA-2 Deficiency.

Herberto Jose Chong-Neto¹, Gesmar Rodrigues Silva Segundo^2,3, Márcia Bandeira⁴, Débora Carla Chong-Silva⁴, Cristine Secco Rosário⁴, Carlos A Riedi⁴, Michael S Hershfield⁵, Hans Ochs³, Troy Torgerson³, Nelson Augusto Rosário⁴.

Abstract

Entities: Disease Gene

Mesh：

Substances：

Year: 2019 PMID： 31617030 DOI： 10.1007/s10875-019-00697-2

Source DB: PubMed Journal: J Clin Immunol ISSN： 0271-9142 Impact factor: 8.317

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12 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. 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

Review 3. [Multiple facets of ADA2 deficiency: Vasculitis, auto-inflammatory disease and immunodeficiency: A literature review of 135 cases from literature].

Authors: A Fayand; G Sarrabay; A Belot; V Hentgen; I Kone-Paut; G Grateau; I Melki; S Georgin-Lavialle
Journal: Rev Med Interne Date: 2017-12-19 Impact factor: 0.728

4. Screening of 181 Patients With Antibody Deficiency for Deficiency of Adenosine Deaminase 2 Sheds New Light on the Disease in Adulthood.

Authors: Johanna Schepp; Michele Proietti; Natalie Frede; Mary Buchta; Katrin Hübscher; Jessica Rojas Restrepo; Sigune Goldacker; Klaus Warnatz; Jana Pachlopnik Schmid; Andrea Duppenthaler; Vassilios Lougaris; Ignacio Uriarte; Susan Kelly; Michael Hershfield; Bodo Grimbacher
Journal: Arthritis Rheumatol Date: 2017-07-05 Impact factor: 10.995

5. Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia.

Authors: Funda Erol Cipe; Cigdem Aydogmus; Nina K Serwas; Gonca Keskindemirci; Kaan Boztuğ
Journal: J Clin Immunol Date: 2018-03-21 Impact factor: 8.317

6. 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

7. 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

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. Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency.

Authors: Lien Van Eyck; Michael S Hershfield; Diana Pombal; Susan J Kelly; Nancy J Ganson; Leen Moens; Glynis Frans; Heidi Schaballie; Gert De Hertogh; James Dooley; Xavier Bossuyt; Carine Wouters; Adrian Liston; Isabelle Meyts
Journal: J Allergy Clin Immunol Date: 2014-11-25 Impact factor: 10.793

Review 10. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

Authors: Isabelle Meyts; Ivona Aksentijevich
Journal: J Clin Immunol Date: 2018-06-27 Impact factor: 8.317

4 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