Evidence map›Paper›PMID 34938098›Full record

ArticlePharmacogenomics and personalized medicine2021

RF1 Gene Mutation in Familial Hemophagocytic Lymphohistiocytosis 2: A Family Report and Literature Review.

Yuan Shi, Zhidong Qiao, Xiaoduo Bi, Chenxin Zhang, Junxian Fu, Yuexin Jia, Guanglu Yang

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

Article in Pharmacogenomics and personalized medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 77% 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

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. 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

7 authors at 1 institution in 1 country.

Yuan Shi *Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Zhidong Qiao *Department of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Xiaoduo BiDepartment of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Chenxin ZhangDepartment of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Junxian FuDepartment of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Yuexin JiaDepartment of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Guanglu YangDepartment of Pediatric, The Affiliated Hospital of Inner Mongolia Medical University, Hohhot, 010000, People's Republic of China.
Inner Mongolia Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveGene mutation analysis was performed on a family with familial hemophagocytic lymphohistiocytosis (FHL) so as to provide an accurate etiological diagnosis, leading to genetic counseling for the family members.

methodsThe clinical data of two probands (siblings) with FHL in one family were analyzed, and eight genes related to the onset of the primary hemophagocytic lymphohistiocytosis (pHLH) (

resultsProband 1 was a two-year-old male with the clinical manifestations of fever, hepatosplenomegaly, and a decreased peripheral blood cell count, sCD25: 12504pg/mL. The results of genetic testing showed that there was a c.1349C>T heterozygous missense mutation and a c.853_855del heterozygous mutation in the

conclusionAccording to the clinical manifestations, laboratory tests, and results of the family molecular genetic testing, the probands could be clinically diagnosed as FHL2. The results of gene sequencing revealed that this was an autosomal recessive family with familial hemophagocytic syndrome. A rare pathogenic mutation (c.853_855del) in the

Indexed as

FHLnovel mutationPRF1

Identifiers

PMID34938098
PMCPMC8687883
OpenAlexW4200378047

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.