Evidence map›Paper›PMID 31267431›Full record

ArticleJournal of clinical immunology2019

Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma.

David Buchbinder, Ivan Kirov, Jeffrey Danielson, Nirali N Shah, Alexandra F Freeman, Rishikesh S Chavan, Helen C Su

Open access · greenAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical immunology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.9field-weighted citation impact, top 27% 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

8 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
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  7. Human inborn errors of immunity to herpes viruses.Current opinion in immunology · 2020
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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

7 authors at 2 institutions in 1 country.

David BuchbinderDepartment of Hematology, Children's Hospital of Orange County, 1201 W. La Veta Avenue, Orange, CA, 92868, USA. dbuchbinder@choc.org.ORCID 0000-0002-9470-3473
Ivan KirovDepartment of Pediatrics, University of California at Irvine, Orange, CA, USA.
Jeffrey DanielsonLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
Nirali N ShahPediatric Oncology Branch, NCI, NIH, Bethesda, MD, USA.
Alexandra F FreemanLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
Rishikesh S ChavanDepartment of Pediatrics, University of California at Irvine, Orange, CA, USA.
Helen C SuLaboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA.
Children's Hospital of Orange County · USNational Institutes of Health · US

Funding

Primary Immune Deficiency ClinicZIAAI001247 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI FREEMAN, ALEXANDRA · 2019 to 2025
$8.7M
Immunotherapeutic approaches to treat pediatric hematologic malignanciesZIABC011823 · NCI · DIVISION OF BASIC SCIENCES - NCI · PI SHAH, NIRALI · 2019 to 2025
$6.1M
Understanding DOCK8 Function in Health and Human DiseaseZIAAI001193 · NIAID · NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES · PI SU, HELEN CHUN-HUI · 2014 to 2025
$4.5M
Intramural NIH HHS ZIA BC011823
6 · The paper itself

Abstract

Mutations in Dedicator of cytokinesis 8 (DOCK8) are a rare cause of combined immunodeficiency associated with atopy, infectious susceptibility, and risk for malignancy. We describe a 22-year-old male with a diagnosis of B cell lymphoblastic leukemia followed by Epstein-Barr virus (EBV)-associated diffuse large B cell lymphoma (DLBCL) with compound heterozygous mutations in DOCK8 and normal intracellular DOCK8 protein expression. Here, B cell lymphoblastic leukemia followed by EBV-associated DLBCL led to the discovery of DOCK8 deficiency. For instances of high clinical suspicion despite normal DOCK8 protein expression, additional functional testing is critical to make a diagnosis. Understanding the spectrum of DOCK8 mutants and their phenotypes will improve our understanding of DOCK8 deficiency.

Indexed as

Herpesvirus 4, HumanMutationAllelesEpstein-Barr Virus InfectionsGenotypeGuanine Nucleotide Exchange FactorsHumansLymphoma, Large B-Cell, DiffuseMalePrecursor B-Cell Lymphoblastic Leukemia-LymphomaYoung AdultDOCK8 protein, humanGuanine Nucleotide Exchange FactorsB cell lymphoblastic leukemiacombined immunodeficiencydedicator of cytokinesis 8diffuse large B cell lymphoma

Identifiers

PMID31267431
PMCPMC8495472
OpenAlexW2955204635

What OpenQuestion holds

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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.