Associated Papers
Polyarteritis nodosa presenting with pancreatic-artery rupture and co-existing MEFV and ADA2 mutation: clinicopathological and genomic insights from a case report.
Luo J et al.
Virchows Archiv : an International Journal of Pathology, 2025
Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.
Villa M et al.
British Journal of Cancer, 2024
39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf
Atypical presentation of adenosine deaminase 2 deficiency with bi-allelic ADA2 mutation.
Al-Shaikh R et al.
Clinical Case Reports, 2022
Comprehensive analysis of ADA2 genetic variants and estimation of carrier frequency driven by a function-based approach.
Jee H et al.
The Journal of Allergy and Clinical Immunology, 2022
Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease.
Endo Y et al.
Clinical and Experimental Immunology, 2021
Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.
Fontana D et al.
Hemasphere, 2020
33196013 (PubMed )
Supplement: hs9-4-e497-s009.xlsx › Sheet1
A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience.
Rama M et al.
European Journal of Human Genetics : Ejhg, 2018
Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing.
Ellyard JI et al.
Arthritis & Rheumatology (hoboken, N.j.), 2014
Mutant ADA2 in vasculopathies.
Kastner DL et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
van Montfrans J et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Bras J et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Van Eyck L et al.
The New England Journal of Medicine, 2014
Mutant ADA2 in vasculopathies.
Segel R et al.
The New England Journal of Medicine, 2014
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