A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience-Reference-Cited by-同舟云学术

A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

Published:2018-04-23 Issue:7 Volume:26 Page:960-971
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Rama Mélanie,Duflos Claire,Melki Isabelle,Bessis Didier,Bonhomme Axelle,Martin Hélène,Doummar Diane,Valence Stéphanie,Rodriguez Diana,Carme Emilie,Genevieve David,Heimdal Ketil,Insalaco Antonella,Franck Nathalie,Queyrel-Moranne Viviane,Tieulie Nathalie,London Jonathan,Uettwiller Florence,Georgin-Lavialle Sophie,Belot Alexandre,Koné-Paut Isabelle,Hentgen Véronique,Boursier Guilaine,Touitou Isabelle^ORCID,Sarrabay Guillaume

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s41431-018-0130-6.pdf

Reference24 articles.

1. Zhou Q, Yang D, Ombrello AK, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370:911–20.

2. Navon Elkan P, Pierce SB, Segel R, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370:921–31.

3. Caorsi R, Penco F, Schena F, Gattorno M. Monogenic polyarteritis: the lesson of ADA2 deficiency. Pediatr Rheumatol Online J. 2016;14:14 https://doi.org/10.1186/s12969-016-0111-7

4. Oda H, Kastner DL. Genomics, biology, and human illness: advances in the monogenic autoinflammatory diseases. Rheum Dis Clin N Am. 2017;43:327–45.

5. Hashem H, Kelly SJ, Ganson NJ, Hershfield MS. Deficiency of adenosine deaminase 2 (DADA2), an inherited cause of polyarteritis nodosa and a mimic of other systemic rheumatologic disorders. Curr Rheumatol Rep. 2017;19:70.

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