Evidence map›Paper›PMID 35336791›Full record

ArticleBiology2022

Hemophagocytic Lymphohistiocytosis Gene Variants in Multisystem Inflammatory Syndrome in Children.

Anshul Vagrecha, Mingce Zhang, Suchitra Acharya, Shannon Lozinsky, Aaron Singer, Chana Levine, Maha Al-Ghafry, Carolyn Fein Levy, Randy Q Cron

Open access · goldAbstract read
In one paragraph

Article in Biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
6.6field-weighted citation impact, top 2% 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

31 citing papers in PubMed, 41 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Role of DOCK8 in cytokine storm syndromes.The Journal of allergy and clinical immunology · 2025
    Article
  9. Observational
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Genetics of Primary Hemophagocytic Lymphohistiocytosis.Advances in experimental medicine and biology · 2024
    Review
  16. Inborn Errors of Immunity and Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024
    Review
  17. COVID-19 Pneumonia and Cytokine Storm Syndrome.Advances in experimental medicine and biology · 2024
    Review
  18. Kawasaki Disease-Associated Cytokine Storm Syndrome.Advances in experimental medicine and biology · 2024
    Review
  19. IL-1 Family Blockade in Cytokine Storm Syndromes.Advances in experimental medicine and biology · 2024
    Review
  20. Review
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 4 institutions in 1 country.

Anshul VagrechaDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.ORCID 0000-0001-9095-7575
Mingce ZhangDivision of Pediatric Rheumatology, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL 35233, USA.
Suchitra AcharyaDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Shannon LozinskyDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Aaron SingerYeshiva College, Yeshiva University, New York, NY 10033, USA.
Chana LevineDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Maha Al-GhafryDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Carolyn Fein LevyDepartment of Pediatrics, Division of Hematology/Oncology and Cellular Therapy, Cohen Children's Medical Center, New Hyde Park, NY 11040, USA.
Randy Q CronDivision of Pediatric Rheumatology, Children's of Alabama, University of Alabama at Birmingham, Birmingham, AL 35233, USA.ORCID 0000-0003-2661-3086
Hofstra University · USChildren's of Alabama · USCohen Children's Medical Center · USYeshiva University · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Multisystem inflammatory syndrome in children (MIS-C) affects few children previously infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). In 2020, 45 children admitted to our hospital for MIS-C underwent genetic screening with a commercial 109-immune-gene panel. Thirty-nine children were diagnosed with MIS-C, and 25.4% of the 39 MIS-C patients harbored rare heterozygous missense mutations either in primary hemophagocytic lymphohistiocytosis (pHLH) genes (LYST, STXBP2, PRF1, UNC13D, AP3B1) or the HLH-associated gene DOCK8 (four variants). We demonstrate that foamy virus introduction of cDNA for the four DOCK8 variants into human NK-92 natural killer (NK) cells led to decreased CD107a expression (degranulation) and decreased NK cell lytic function in vitro for each variant. Heterozygous carriers of missense mutations in pHLH genes and DOCK8 may serve as risk factors for development of MIS-C among children previously infected with SARS-CoV-2.

Indexed as

DOCK8HLHMIS-CVUS

Identifiers

PMID35336791
PMCPMC8945334
OpenAlexW4221049317

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.