Evidence map›Paper›PMID 35719382›Full record

ArticleFrontiers in genetics2022

Case Report: Preimplantation Genetic Testing for X-Linked Severe Combined Immune Deficiency Caused by

Jun Ren, Cuiting Peng, Fan Zhou, Yutong Li, Yuezhi Keqie, Han Chen, Hongmei Zhu, Xinlian Chen, Shanling Liu

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

Article in Frontiers in genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

3 citing papers in PubMed, 4 citations in OpenAlex.

  1. In vitro fertilization as an option for couples with genetic disorders.Clinical and experimental reproductive medicine · 2025
    Article
  2. Article
  3. HemizygousThe application of clinical genetics · 2025
    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 2 institutions in 1 country.

Jun RenDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Cuiting PengDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Fan ZhouDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Yutong LiDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Yuezhi KeqieDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Han ChenDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Hongmei ZhuDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Xinlian ChenDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Shanling LiuDepartment of Medical Genetics, Center of Prenatal Diagnosis, West China Second University Hospital, Sichuan University, Chengdu, China.
Sichuan University · CNWest China Second University Hospital of Sichuan University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Preimplantation genetic testing (PGT) has been increasingly used to prevent rare inherited diseases. In this study, we report a case where PGT was used to prevent the transmission of disease-caused variant in a SCID-X1 (OMIM:300400) family. SCID-X1 is an X-linked recessive inherited disease whose major clinical manifestation of immune deficiency is the significant reduction in the number of T-cells and natural killer cells. This family gave birth to a boy who was a hemizygous proband whose

Indexed as

haplotypeIR2RGnext generation sequencingpreimplantation genetic testingrare genetic diseasesevere combined immune deficiency

Identifiers

PMID35719382
PMCPMC9198258
OpenAlexW4281685859

What OpenQuestion 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 OpenQuestion graph.