ADA2 deficiency due to a novel structural variation in 22q11.1-Reference-Cited by-同舟云学术

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

Published:2019-03-28 Issue:6 Volume:95 Page:732-733
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Grossi Alice¹,Cusano Roberto²,Rusmini Marta¹,Penco Federica³,Schena Francesca³,Podda Rosa A.⁴,Caorsi Roberta³,Gattorno Marco³,Uva Paolo²,Ceccherini Isabella¹^ORCID

Affiliation:

1. UOC Genetica MedicaIRCCS Istituto Giannina Gaslini Genoa Italy

2. CRS4Science and Technology Park Polaris Pula Italy

3. UOSD Malattie Autoinfiammatorie/ImmunodeficienzeIRCCS Istituto Giannina Gaslini Genoa Italy

4. Ospedale Brotzu and Università di Cagliari Cagliari Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13518

Reference5 articles.

1. Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity

2. ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study

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

4. Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications

5. Disrupted N‐linked glycosylation as a disease mechanism in deficiency of ADA2;Lee PY;J Allergy Clin Immunol,2018

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1. Expert Perspective: Diagnostic Approach to the Autoinflammatory Diseases;Arthritis & Rheumatology;2023-12-08

2. Evaluation and Management of Deficiency of Adenosine Deaminase 2;JAMA Network Open;2023-05-31

3. A wide spectrum of phenotype of deficiency of deaminase 2 (DADA2): a systematic literature review;Orphanet Journal of Rare Diseases;2023-05-13

4. A Cohort Study on Deficiency of ADA2 from China;Journal of Clinical Immunology;2023-02-18

5. A Novel LC–MS/MS-Based Method for the Diagnosis of ADA2 Deficiency from Dried Plasma Spot;Molecules;2021-09-21