Evidence map›Paper›PMID 36941081›Full record

ArticleNeurology(R) neuroimmunology & neuroinflammation2023

TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series.

Ariane Soldatos, Camilo Toro, Patrycja Hoffmann, Tina Romeo, Natalie Deuitch, Alessandra Brofferio, Ivona Aksentijevich, Daniel L Kastner, Amanda K Ombrello

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurology(R) neuroimmunology & neuroinflammation, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.6field-weighted citation impact, top 15% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 7 citations in OpenAlex.

  1. Review
  2. Decoding neurovascular signatures: advanced imaging insights in DADA2-Related Cerebral Microangiopathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  3. Article
  4. Deficiency of adenosine deaminase 2 (DADA2) with recurrent ischemic stroke, fever and cutaneous changes: A case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025
    Article
  5. Review
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

Ariane SoldatosFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD. ariane.soldatos@nih.gov.
Camilo ToroFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Patrycja HoffmannFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Tina RomeoFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Natalie DeuitchFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Alessandra BrofferioFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Ivona AksentijevichFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.ORCID 0000-0002-6564-7214
Daniel L KastnerFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
Amanda K OmbrelloFrom the National Institute of Neurological Disorders and Stroke (A.S.); National Human Genome Research Institute (C.T., P.H., T.R., N.D., I.A., D.L.K., A.K.O.); and National Heart (A.B.), Lung, and Blood Institute, Bethesda, MD.
National Heart Lung and Blood Institute · US

Funding

Genetics, Pathophysiology, and Treatment of Recessive Autoinflammatory DiseasesZIAHG200372 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI KASTNER, DANIEL · 2011 to 2025
$27.2M
Undiagnosed Diseases ProgramZIAHG200421 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2023 to 2025
$825k
6 · The paper itself

Abstract

objectivesAdenosine deaminase 2 deficiency (DADA2) is a genetic, neurologic, and systemic vasculitis syndrome, which can lead to recurrent strokes, typically lacunar. In the cohort of now 60 patients followed up at the NIH Clinical Center (NIH CC), no patient has had a stroke since starting tumor necrosis factor (TNF) blockade. We present a family with multiple affected children to highlight the importance of TNF blockade not just as secondary stroke prevention but also as primary stroke prevention in genetically affected but clinically asymptomatic patients.

methodsA proband with recurrent cryptogenic strokes was referred for evaluation at the NIH CC. The parents and 3 clinically asymptomatic siblings were also evaluated.

resultsThe proband was diagnosed with DADA2 based on biochemical testing; her antiplatelet therapies were discontinued, and she was started on TNF blockade for secondary stroke prevention. Her 3 asymptomatic siblings were subsequently tested and 2 were found to be biochemically affected. One of them elected to start TNF blockade for primary stroke prevention and the other sibling declined this approach and experienced a stroke. A second genetic sequence variant was subsequently identified in the DISCUSSION: This family illustrates the importance of testing for DADA2 in young patients with cryptogenic stroke, given the hemorrhagic risks with antiplatelet drugs in these patients and effectiveness of TNF blockade as secondary stroke prevention. In addition, this family highlights the importance of screening all siblings of affected patients because they may be presymptomatic, and we advocate starting TNF blockade for primary stroke prevention in those who are found to be genetically or biochemically affected.

Indexed as

Adenosine DeaminaseStrokeAgammaglobulinemiaChildFemaleHumansIntercellular Signaling Peptides and ProteinsSevere Combined ImmunodeficiencyTumor Necrosis Factor-alphaAdenosine DeaminaseIntercellular Signaling Peptides and ProteinsTumor Necrosis Factor-alpha

Identifiers

PMID36941081
PMCPMC10027231
OpenAlexW4327914795

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.