Literature DB >> 30920658

ADA2 deficiency due to a novel structural variation in 22q11.1.

Alice Grossi1, Roberto Cusano2, Marta Rusmini1, Federica Penco3, Francesca Schena3, Rosa A Podda4, Roberta Caorsi3, Marco Gattorno3, Paolo Uva2, Isabella Ceccherini1.   

Abstract

Entities:  

Year:  2019        PMID： 30920658     DOI： 10.1111/cge.13518

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  5 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

Review 2.  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 3.  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

Review 4.  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

5.  Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.

Authors:  Alice Grossi; Maurizio Miano; Marina Lanciotti; Francesca Fioredda; Daniela Guardo; Elena Palmisani; Paola Terranova; Giuseppe Santamaria; Francesco Caroli; Roberta Caorsi; Stefano Volpi; Marco Gattorno; Carlo Dufour; Isabella Ceccherini
Journal:  Genes (Basel)       Date:  2021-08-24       Impact factor: 4.096
  5 in total

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