Evidence map›Paper›PMID 32256297›Full record

ArticleMolecular syndromology2020

Immunodeficiency in a Patient with 22q11.2 Distal Deletion Syndrome and a p.Ala7dup Variant in the

Ana I Sánchez, Mary A García-Acero, Angela Paredes, Rossi Quero, Rita I Ortega, Jorge A Rojas, Daniel Herrera, Miguel Parra, Karol Prieto, Juana Ángel and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular syndromology, 2020. 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
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. 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

13 authors.

Ana I SánchezInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Mary A García-AceroInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Angela ParedesInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Rossi QueroInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Rita I OrtegaInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Jorge A RojasInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Daniel HerreraInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Miguel ParraInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Karol PrietoImmunobiology and Cell Biology Group, Department of Microbiology, School of Science Pontificia Universidad Javeriana, Bogota, Colombia.
Juana ÁngelInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Luz-Stella RodríguezInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Juan C PrietoInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.
Manuel FrancoInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogota, Colombia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The genetic basis for sporadic immunodeficiency in patients with 22q11.2 distal deletion syndrome is unknown. We report an adult with a type 1 (D-F) 22q11.2 distal deletion syndrome and recurrent severe infections due to herpes zoster virus, presenting mild T cell lymphopenia and diminished frequency of naive CD4

Indexed as

22q11.2 distal (D–F) deletion syndromeImmunodeficiencyMAPK1T lymphocytes

Identifiers

PMID32256297
PMCPMC7109426

What OpenQuestion holds

Textmetadata
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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.