Evidence map›Paper›PMID 31788263›Full record

ArticleClinical case reports2019

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.

Sejal Kadakia, Lauge Farnaes, David Dimmock, Shimul Chowdhury, Yan Ding, Eric J Anderson, Stephen Kingsmore, Ron S Newfield

2 registry-linked trialsAbstract readCase Reports
In one paragraph

Article in Clinical case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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.

NCT02917460 narecruitingnot on this map

Genomic Biorepository: Protocol for the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

TypeinterventionalSponsorRady Pediatric Genomics & Systems Medicine InstituteRan2016 to 2050Enrolled102,000ConditionsGenetic DiseasesArmsGenomic sequencing and molecular diagnostic results, if any
NCT03385876 naenrolling by invitationnot on this map

Rapid Whole Genome Sequencing (rWGS): Rapid Genomic Sequencing for Acutely Ill Patients and the Collection, Storage, Analysis, and Distribution of Biological Samples, Genomic and Clinical Data

TypeinterventionalSponsorRady Pediatric Genomics & Systems Medicine InstituteRan2017 to 2050Enrolled100,000ConditionsGenetic Diseases, Genetic SyndromeArmsGenomic sequencing and molecular diagnostic results, if any
3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. A Structure-Guided Delineation of FOXP3 Regulation Mechanism in IPEX.Advances in experimental medicine and biology · 2021
    Article
  3. Review
  4. 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

8 authors.

Sejal KadakiaDivision of Pediatric Endocrinology Children's Hospital of Orange County Orange CA USA.
Lauge FarnaesRady Children's Hospital of San Diego San Diego CA USA.
David DimmockRady Children's Institute for Genomic Medicine San Diego CA USA.
Shimul ChowdhuryRady Children's Institute for Genomic Medicine San Diego CA USA.
Yan DingRady Children's Institute for Genomic Medicine San Diego CA USA.
Eric J AndersonRady Children's Hospital of San Diego San Diego CA USA.
Stephen KingsmoreRady Children's Institute for Genomic Medicine San Diego CA USA.
Ron S NewfieldRady Children's Hospital of San Diego San Diego CA USA.ORCID https://orcid.org/0000-0001-6274-8530

Funding

ConProject-001U19HD077693 · NICHD · RADY PEDIATRIC GENOMICS & SYSTEMS MEDICINE INSTITUTE · PI KINGSMORE, STEPHEN FRANCIS · 2013 to 2018
$6.2M
NICHD NIH HHS U19 HD077693
6 · The paper itself

Abstract

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X-linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

Indexed as

autoimmunitybone marrow transplantationdiabetes mellitusinfantX‐linked

Identifiers

PMID31788263
PMCPMC6878034

What OpenQuestion holds

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Registered trials

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.