Literature DB >> 27514238

Extending the Clinical Phenotype of Adenosine Deaminase 2 Deficiency.

Tal Ben-Ami1, Shoshana Revel-Vilk2, Rebecca Brooks3, Avraham Shaag4, Michael S Hershfield5, Susan J Kelly6, Nancy J Ganson6, Shlomit Kfir-Erenfeld7, Michael Weintraub2, Orly Elpeleg4, Yackov Berkun3, Polina Stepensky2.   

Abstract

Adenosine deaminase 2 deficiency is an autoinflammatory disease, characterized by various forms of vasculitis. We describe 5 patients with adenosine deaminase 2 deficiency with various hematologic manifestations, including pure red cell aplasia, with no evidence for vasculitis.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  autoinflammatory diseases; pure red cell aplasia; vasculitis; whole exome sequencing

Mesh：

Substances：

Year:  2016        PMID： 27514238     DOI： 10.1016/j.jpeds.2016.06.058

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  39 in total

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2.  Childhood Hodgkin Lymphoma: Think DADA2.

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4.  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
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5.  Hematopoietic Stem Cell Transplantation in ADA2 Deficiency: Early Restoration of ADA2 Enzyme Activity and Disease Relapse upon Drop of Donor Chimerism.

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8.  Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency.

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10.  Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.

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Journal:  Hum Mutat       Date:  2020-08-30       Impact factor: 4.878
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