Proposal for a Disease Activity Score and Disease Damage Score for ADA2 Deficiency: the DADA2AI and DADA2DI
Author:
Funder
Fonds Wetenschappelijk Onderzoek
HORIZON EUROPE European Research Council
Onderzoeksraad, KU Leuven
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01638-w.pdf
Reference5 articles.
1. Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med. 2014;370(10):911–20.
2. Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S, et al. Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med. 2014;370(10):921–31.
3. Jee H, Huang Z, Baxter S, Huang Y, Taylor ML, Henderson LA, et al. Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach. J Allergy Clin Immunol. 2022;149(1):379–87.
4. Meyts I, Aksentijevich I. Deficiency of adenosine deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–78.
5. Lee PY, Davidson BA, Abraham RS, Alter B, Arostegui JI, Bell K, et al. Evaluation and management of deficiency of adenosine deaminase 2: an international consensus statement. JAMA Netw Open. 2023;6(5):e2315894.
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