Evidence map›Paper›PMID 32532877›Full record

ArticleCold Spring Harbor molecular case studies2020

Reticular dysgenesis caused by an intronic pathogenic variant in

Shoji Ichikawa, Susan Prockop, Charlotte Cunningham-Rundles, Travis Sifers, Blair R Conner, Sitao Wu, Rachid Karam, Michael F Walsh, Elise Fiala

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

Article in Cold Spring Harbor molecular case studies, 2020. 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
–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.

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. Article
  2. Article
  3. 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 3 institutions in 1 country.

Shoji IchikawaDepartment of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California 92656, USA.ORCID 0000-0001-6477-0520
Susan ProckopMSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.ORCID 0000-0003-4175-5728
Charlotte Cunningham-RundlesDivision of Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.ORCID 0000-0003-0725-0320
Travis SifersDivision of Clinical Immunology, Departments of Medicine and Pediatrics, Icahn School of Medicine at Mount Sinai, New York, New York 10029, USA.ORCID 0000-0001-6334-1097
Blair R ConnerDepartment of Research and Development, Ambry Genetics, Aliso Viejo, California 92656, USA.ORCID 0000-0002-6295-8375
Sitao WuDepartment of Bioinformatics and Computational Biology, Ambry Genetics, Aliso Viejo, California 92656, USA.ORCID 0000-0002-4740-8885
Rachid KaramDepartment of Research and Development, Ambry Genetics, Aliso Viejo, California 92656, USA.ORCID 0000-0002-5645-498X
Michael F WalshMSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.
Elise FialaMSK Kids, Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, New York 10065, USA.ORCID 0000-0002-1626-5009
Ambry Genetics (United States) · USMemorial Sloan Kettering Cancer Center · USIcahn School of Medicine at Mount Sinai · US

Funding

X-RAY CRYSTALLOGRAPHYP30CA008748 · NCI · SLOAN-KETTERING INSTITUTE FOR CANCER RES · PI Nicholas D Socci · 1985 to 2026
$347.4M
Regulation of IgA class switching in the intestinal mucosaP01AI061093 · NIAID · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2004 to 2021
$29.8M
Resources to Assist Investigations in Primary Immunodeficiency Diseases (U24)U24AI086037 · NIAID · IMMUNE DEFICIENCY FOUNDATION · PI CUNNINGHAM-RUNDLES, CHARLOTTE · 2010 to 2019
$6.5M
NCI NIH HHS P30 CA008748NIAID NIH HHS P01 AI061093NIAID NIH HHS U24 AI086037
6 · The paper itself

Abstract

Reticular dysgenesis is a form of severe combined immunodeficiency (SCID) caused by biallelic pathogenic variants in

Indexed as

Genetic Association StudiesGenetic Predisposition to DiseaseGenetic VariationIntronsAdenylate KinaseAllelesDNA Mutational AnalysisExonsHumansInfantInfant, NewbornLeukopeniaMaleMutationPeripheral Blood Stem Cell TransplantationPhenotypeAdenylate Kinaseadenylate kinase 2severe combined immunodeficiency

Identifiers

PMID32532877
PMCPMC7304357
OpenAlexW3035618565

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.