Evidence map›Paper›PMID 37600787›Full record

ArticleFrontiers in immunology2023

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature.

S Ricci, S Abu-Rumeileh, N Campagna, F Barbati, S Stagi, C Canessa, L Lodi, B Palterer, L Maggi, A Matucci and 3 more

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

Article in Frontiers in immunology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.2field-weighted citation impact, top 39% 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

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

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 at 4 institutions in 1 country.

S RicciDepartment of Health Sciences, University of Florence, Florence, Italy.
S Abu-RumeilehDepartment of Health Sciences, University of Florence, Florence, Italy.
N CampagnaDepartment of Health Sciences, University of Florence, Florence, Italy.
F BarbatiDepartment of Health Sciences, University of Florence, Florence, Italy.
S StagiDepartment of Health Sciences, University of Florence, Florence, Italy.
C CanessaDepartment of Health Sciences, University of Florence, Florence, Italy.
L LodiDepartment of Health Sciences, University of Florence, Florence, Italy.
B PaltererDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
L MaggiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
A MatucciImmunoallergology Unit, Careggi University Hospital, Florence, Italy.
A VultaggioDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
F AnnunziatoDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
C AzzariDepartment of Health Sciences, University of Florence, Florence, Italy.
University of Florence · ITAzienda Ospedaliero-Universitaria Careggi · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITMeyer Children's Hospital · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH). Whole exome sequencing revealed a novel single-nucleotide duplication in the

Indexed as

Common Variable ImmunodeficiencyImmunologic Deficiency SyndromesChildFemaleFrameshift MutationHaploinsufficiencyHumansMothersNF-kappa B p50 SubunitNF-kappa B p50 SubunitNFKB1 protein, humancommon variable immunodeficiencygrowth hormoneNFKB1short staturewhole exome sequencing

Identifiers

PMID37600787
PMCPMC10434558
OpenAlexW4385550219

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.