Literature DB >> 27069017

Novel compound heterozygous variants in CECR1 gene associated with childhood onset polyarteritis nodosa and deficiency of ADA2.

Nikky Keer1, Michael Hershfield2, Thomas Caskey3, Sebastian Unizony4.   

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Year:  2016        PMID: 27069017     DOI: 10.1093/rheumatology/kew050

Source DB:  PubMed          Journal:  Rheumatology (Oxford)        ISSN: 1462-0324            Impact factor:   7.580


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  7 in total

1.  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

Review 2.  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

3.  Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.

Authors:  Hyuk Jee; Zhengping Huang; Samantha Baxter; Yuelong Huang; Maria L Taylor; Lauren A Henderson; Sofia Rosenzweig; Aman Sharma; Eugene P Chambers; Michael S Hershfield; Qing Zhou; Fatma Dedeoglu; Ivona Aksentijevich; Peter A Nigrovic; Anne O'Donnell-Luria; Pui Y Lee
Journal:  J Allergy Clin Immunol       Date:  2021-05-15       Impact factor: 10.793

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

Authors:  Thomas F Michniacki; Mark Hannibal; Charles W Ross; David G Frame; Adam S DuVall; Rami Khoriaty; Mark T Vander Lugt; Kelly J Walkovich
Journal:  J Clin Immunol       Date:  2018-02-06       Impact factor: 8.542

Review 5.  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

Review 6.  Recent advances in primary immunodeficiency: from molecular diagnosis to treatment.

Authors:  Giorgia Bucciol; Isabelle Meyts
Journal:  F1000Res       Date:  2020-03-19

Review 7.  The Many Faces of a Monogenic Autoinflammatory Disease: Adenosine Deaminase 2 Deficiency.

Authors:  Jennifer Lee Kendall; Jason Michael Springer
Journal:  Curr Rheumatol Rep       Date:  2020-08-26       Impact factor: 4.592

  7 in total

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