Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

Brief ReportPediatric Neuroimaging
Open Access

Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency

A.F. Geraldo, R. Caorsi, D. Tortora, C. Gandolfo, R. Ammendola, M. Alessio, G. Conti, A. Insalaco, S. Pastore, S. Martino, I. Ceccherini, S. Signa, M. Gattorno, A. Rossi and M. Severino
American Journal of Neuroradiology February 2021, DOI: https://doi.org/10.3174/ajnr.A7019
A.F. Geraldo
aFrom the Neuroradiology Unit (A.F.G., D.T., R.A., A.R., M.S.)
dDiagnostic Neuroradiology Unit, Imaging Department (A.F.G.), Centro Hospitalar Vila Nova de Gaia/Espinho, Vila Nova de Gaia, Portugal
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A.F. Geraldo
R. Caorsi
bCenter for Autoinflammatory Diseases and Immunodeficiencies (R.C., S.S., M.G.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for R. Caorsi
D. Tortora
aFrom the Neuroradiology Unit (A.F.G., D.T., R.A., A.R., M.S.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for D. Tortora
C. Gandolfo
cInterventional Unit (C.G.), IRCCS Istituto Giannina Gaslini, Genoa, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for C. Gandolfo
R. Ammendola
aFrom the Neuroradiology Unit (A.F.G., D.T., R.A., A.R., M.S.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for R. Ammendola
M. Alessio
eDepartment of Translational Medical Sciences (M.A.), Federico II University of Naples, Naples, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Alessio
G. Conti
fPediatric Nephrology and Rheumatology Unit (G.C.), AOU G Martino, Messina, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for G. Conti
A. Insalaco
gDivision of Rheumatology (A.I.), IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Insalaco
S. Pastore
hDepartment of Pediatrics (S.P.), Institute for Maternal and Child Health - IRCCS “Burlo Garofolo”, Trieste, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Pastore
S. Martino
iDivision of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics (S.M.), Regina Margherita Children Hospital, University of Turin, Turin, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Martino
I. Ceccherini
jUOSD Genetics and Genomics of Rare Diseases (I.C.), IRCCS Istituto Giannina Gaslini, Genoa, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for I. Ceccherini
S. Signa
bCenter for Autoinflammatory Diseases and Immunodeficiencies (R.C., S.S., M.G.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for S. Signa
M. Gattorno
bCenter for Autoinflammatory Diseases and Immunodeficiencies (R.C., S.S., M.G.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Gattorno
A. Rossi
aFrom the Neuroradiology Unit (A.F.G., D.T., R.A., A.R., M.S.)
kDepartment of Health Sciences (DISSAL) (A.R.), University of Genoa, Genoa, Italy
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for A. Rossi
M. Severino
aFrom the Neuroradiology Unit (A.F.G., D.T., R.A., A.R., M.S.)
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • ORCID record for M. Severino
  • Article
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. 1.↵
    1. Navon Elkan P,
    2. Pierce SB,
    3. Segel R, et al
    . Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 2014;370:921–31 doi:10.1056/NEJMoa1307362 pmid:24552285
    CrossRefPubMedWeb of Science
  2. 2.↵
    1. Zhou Q,
    2. Yang D,
    3. Ombrello AK, et al
    . Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 2014;370:911–20 doi:10.1056/NEJMoa1307361 pmid:24552284
    CrossRefPubMedWeb of Science
  3. 3.↵
    1. Bras J,
    2. Guerreiro R,
    3. Santo GC
    . Mutant ADA2 in vasculopathies. N Engl J Med 2014;371:478–80 doi:10.1056/NEJMc1405506 pmid:25075847
    CrossRefPubMed
  4. 4.↵
    1. Van Montfrans JM,
    2. Hartman EAR,
    3. Braun KPJ, et al
    . Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations. Rheumatology (Oxford) 2016;55:902–10 doi:10.1093/rheumatology/kev439 pmid:26867732
    CrossRefPubMed
  5. 5.↵
    1. Lee PY,
    2. Kellner ES,
    3. Huang Y, et al
    . Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2). J Allergy Clin Immunol 2020;145:1664–72.e10 doi:10.1016/j.jaci.2019.12.908 pmid:31945408
    CrossRefPubMed
  6. 6.↵
    1. Fayand A,
    2. Sarrabay G,
    3. Belot A, et al
    . Multiple facets of ADA2 deficiency: vasculitis, auto-inflammatory disease and im-munodeficiency: a literature review of 135 cases from literature. Rev Med Interne 2018;39:297–306 doi:10.1016/j.revmed.2017.11.006 pmid:29273180
    CrossRefPubMed
  7. 7.↵
    1. Westendorp WF,
    2. Nederkoorn PJ,
    3. Aksentijevich I, et al
    . Unexplained early-onset lacunar stroke and inflammatory skin lesions: consider ADA2 deficiency. Neurology 2015;84:2092–93 doi:10.1212/WNL.0000000000001581 pmid:25888558
    CrossRefPubMed
  8. 8.↵
    1. Nanthapisal S,
    2. Murphy C,
    3. Omoyinmi E, et al
    . Deficiency of adenosine deaminase type 2: a description of phenotype and genotype in fifteen cases. Arthritis Rheumatol 2016;68:2314–22 doi:10.1002/art.39699 pmid:27059682
    CrossRefPubMed
  9. 9.↵
    1. Elbracht M,
    2. Mull M,
    3. Wagner N, et al
    . Stroke as initial manifestation of adenosine deaminase 2 deficiency. Neuropediatrics 2017;48:111–14 doi:10.1055/s-0036-1597611 pmid:28024309
    CrossRefPubMed
  10. 10.↵
    1. Caorsi R,
    2. Penco F,
    3. Grossi A, et al
    . ADA2 deficiency (DADA2) as an unrecognised cause of early onset polyarteritis nodosa and stroke: a multicentre national study. Ann Rheum Dis 2017;76:1648–56 doi:10.1136/annrheumdis-2016-210802 pmid:28522451
    Abstract/FREE Full Text
  11. 11.↵
    1. Özen S,
    2. Batu ED,
    3. Taşkiran EZ, et al
    . A monogenic disease with a variety of phenotypes: deficiency of adenosine deaminase 2. J Rheumatol 2020;47:117–25 doi:10.3899/jrheum.181384 pmid:31043544
    Abstract/FREE Full Text
  12. 12.↵
    1. Sahin S,
    2. Adrovic A,
    3. Barut K, et al
    . Clinical, imaging and genotypical features of three deceased and five surviving cases with ADA2 deficiency. Rheumatol Int 2018;38:129–36 doi:10.1007/s00296-017-3740-3 pmid:28516235
    CrossRefPubMed
  13. 13.↵
    1. Caorsi R,
    2. Omenetti A,
    3. Morreale A, et al
    . Rapid and sustained effect of anti-TNF treatment in patients with ADA2 deficiency. Ped Rheumatol 2015;13:(Suppl) O80 doi:10.1186/1546-0096-13-S1-O80
    CrossRef
  14. 14.↵
    1. Bulut E,
    2. Erden A,
    3. Karadag O, et al
    . Deficiency of adenosine deaminase 2; special focus on central nervous system imaging. J Neuroradiol 2019;46:193–98 doi:10.1016/j.neurad.2018.05.002 pmid:29913178
    CrossRefPubMed
  15. 15.↵
    1. Ganhão S,
    2. Loureiro GB,
    3. Oliveira DR, et al
    . Two cases of ADA2 deficiency presenting as childhood polyarteritis nodosa: novel ADA2 variant, atypical CNS manifestations, and literature review. Clin Rheumatol 2020;39:3853–60 doi:10.1007/s10067-020-05210-4 pmid:32535845
    CrossRefPubMed
  16. 16.↵
    1. Toyoda K,
    2. Tsutsumi K,
    3. Hirao T, et al
    . Ruptured intracranial aneurysms in pediatric polyarteritis nodosa. Neurol Med Chir (Tokyo) 2012;52:928–932 doi:10.2176/nmc.52.928 pmid:23269053
    CrossRefPubMed
  17. 17.↵
    1. Boukobza M,
    2. Dossier A,
    3. Laissy JP
    . Thrombosed aneurysm of the posterior inferior cerebellar artery and lateral medullary ischemia as the initial presentation of polyarteritis nodosa: case report and literature review. J Stroke Cerebrovasc Dis 2018;27:e168–71 doi:10.1016/j.jstrokecerebrovasdis.2018.02.061 pmid:29602618
    CrossRefPubMed
  18. 18.↵
    1. Smith G,
    2. Hoh BL,
    3. Albayram MS
    . Anterior spinal artery aneurysm presenting with spinal subarachnoid hemorrhage in a case of polyarteritis nodosa. Clin Imaging 2019;56:108–13 doi:10.1016/j.clinimag.2019.04.008 pmid:31029009
    CrossRefPubMed
  19. 19.↵
    1. Wardlaw JM,
    2. Smith C,
    3. Dichgans M
    . Mechanisms of sporadic cerebral small vessel disease: insights from neuroimaging. Lancet Neurol 2013;12:483–97 doi:10.1016/S1474-4422(13)70060-7 pmid:23602162
    CrossRefPubMedWeb of Science
  20. 20.↵
    1. Mandell DM,
    2. Mossa-Basha M,
    3. Qiao Y, et al
    . Intracranial vessel wall MRI: principles and expert consensus recommendations of the American Society of Neuroradiology. AJNR Am J Neuroradiol 2017;38:218–29 doi:10.3174/ajnr.A4893 pmid:27469212
    Abstract/FREE Full Text
  21. 21.↵
    1. Garg N,
    2. Kasapcopur O,
    3. Foster J, et al
    . Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy. Eur J Pediatr 2014;173:827–30 doi:10.1007/s00431-014-2320-8 pmid:24737293
    CrossRefPubMed
  22. 22.↵
    1. Navinan MR,
    2. Subasinghe CJ,
    3. Kandeepan T, et al
    . Polyarteritis nodosa complicated by posterior reversible encephalopathy syndrome: a case report. BMC Res Notes 2014;7:89 doi:10.1186/1756-0500-7-89 pmid:24529495
    CrossRefPubMed
  23. 23.↵
    1. Fugate JE,
    2. Rabinstein AA
    . Posterior reversible encephalopathy syndrome: clinical and radiological manifestations, pathophysiology, and outstanding questions. Lancet Neurol 2015;14:914–25 doi:10.1016/S1474-4422(15)00111-8 pmid:26184985
    CrossRefPubMed
PreviousNext
Back to top
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
A.F. Geraldo, R. Caorsi, D. Tortora, C. Gandolfo, R. Ammendola, M. Alessio, G. Conti, A. Insalaco, S. Pastore, S. Martino, I. Ceccherini, S. Signa, M. Gattorno, A. Rossi, M. Severino
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
American Journal of Neuroradiology Feb 2021, DOI: 10.3174/ajnr.A7019

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency
A.F. Geraldo, R. Caorsi, D. Tortora, C. Gandolfo, R. Ammendola, M. Alessio, G. Conti, A. Insalaco, S. Pastore, S. Martino, I. Ceccherini, S. Signa, M. Gattorno, A. Rossi, M. Severino
American Journal of Neuroradiology Feb 2021, DOI: 10.3174/ajnr.A7019
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One
Purchase

Jump to section

  • Article
    • Abstract
    • ABBREVIATIONS:
    • Case Series
    • DISCUSSION
    • Conclusions
    • Footnotes
    • References
  • Figures & Data
  • Supplemental
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • PubMed
  • Google Scholar

Cited By...

  • Central nervous system vasculopathy: inherited or acquired? The DADA2 conundrum
  • Cerebral Aneurysms and Recurrent TIAs in a 42-Year-Old Patient With DADA2 Mutation: A Case Report
  • Autoinflammatory syndromes in neurology: when our first line of defence misbehaves
  • Crossref (17)
  • Google Scholar

This article has been cited by the following articles in journals that are participating in Crossref Cited-by Linking.

  • The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort
    Karyl S. Barron, Ivona Aksentijevich, Natalie T. Deuitch, Deborah L. Stone, Patrycja Hoffmann, Ryan Videgar-Laird, Ariane Soldatos, Jenna Bergerson, Camilo Toro, Cornelia Cudrici, Michele Nehrebecky, Tina Romeo, Anne Jones, Manfred Boehm, Jennifer A. Kanakry, Dimana Dimitrova, Katherine R. Calvo, Hawwa Alao, Devika Kapuria, Gil Ben-Yakov, Dominique C. Pichard, Londa Hathaway, Alessandra Brofferio, Elisa McRae, Natalia Sampaio Moura, Oskar Schnappauf, Sofia Rosenzweig, Theo Heller, Edward W. Cowen, Daniel L. Kastner, Amanda K. Ombrello
    Frontiers in Immunology 2022 12
  • Mechanisms of vascular inflammation in deficiency of adenosine deaminase 2 (DADA2)
    Pui Y. Lee, Ivona Aksentijevich, Qing Zhou
    Seminars in Immunopathology 2022 44 3
  • Autoinflammatory syndromes in neurology: when our first line of defence misbehaves
    William K Diprose, Anthony Jordan, Neil E Anderson
    Practical Neurology 2022 22 2
  • Inborn Errors of Purine Salvage and Catabolism
    Marcella Camici, Mercedes Garcia-Gil, Simone Allegrini, Rossana Pesi, Giulia Bernardini, Vanna Micheli, Maria Grazia Tozzi
    Metabolites 2023 13 7
  • Deficiency of Adenosine Deaminase 2
    Andrew Grim, Keila R. Veiga, Nadine Saad
    Rheumatic Disease Clinics of North America 2023 49 4
  • Neurological phenotype of adenosine deaminase 2 deficient patients: a cohort study
    Merelijne A. Verschoof, Laura C. C. van Meenen, M. Valérie E. Andriessen, Daniëlle M. C. Brinkman, Sylvia Kamphuis, Taco W. Kuijpers, Helen L. Leavis, G. Elizabeth Legger, Catharina M. Mulders‐Manders, Anne P. J. de Pagter, Abraham Rutgers, Gijs T. J. van Well, Jonathan M. Coutinho, A. Elisabeth Hak, Joris M. van Montfrans, Femke C. C. Klouwer
    European Journal of Neurology 2024 31 1
  • Stroke in Children
    Jenny L. Wilson, Michael Dowling, Heather J. Fullerton
    Stroke 2021 52 10
  • Uncommon Causes of Nontraumatic Intracerebral Hemorrhage
    Hugo Tartarin, Andrea Morotti, Ellis S. Van Etten, Moran Hausman-Kedem, Andreas Charidimou, Eric Jouvent, Sophie Susen, Charlotte Cordonnier, Marco Pasi, Grégoire Boulouis
    Stroke 2024 55 5
  • Clinical and neuroimaging review of monogenic cerebral small vessel disease from the prenatal to adolescent developmental stage
    Mikako Enokizono, Ryo Kurokawa, Akira Yagishita, Yasuhiro Nakata, Sho Koyasu, Hiroshi Nihira, Shigeko Kuwashima, Noriko Aida, Tatsuo Kono, Harushi Mori
    Japanese Journal of Radiology 2024 42 2
  • Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation
    Neetika Gupta, Elka Miller, Aashim Bhatia, Julie Richer, Richard I. Aviv, Nagwa Wilson
    RadioGraphics 2024 44 5

More in this TOC Section

  • Neuroimaging Delineation and Progression of SLSMD
  • fetal brain development of 10 weeks gestation
  • CHARGE fetal MRI clival cleft
Show more PEDIATRIC NEUROIMAGING

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire