Evidence map›Paper›PMID 36569874›Full record

ArticleFrontiers in immunology2022

Case report: A new pathogenic variant of LRBA deficiency with a complex phenotype and Rosai-Dorfman disease.

Francesco Fabozzi, Rita De Vito, Stefania Gaspari, Fabrizio Leone, Maurizio Delvecchio, Emanuele Agolini, Federica Galaverna, Angela Mastronuzzi, Daria Pagliara, Maria Antonietta De Ioris

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

Article in Frontiers in immunology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 45% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Review
  2. 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

10 authors at 5 institutions in 1 country.

Francesco FabozziDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Rita De VitoDepartment of Pathology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Stefania GaspariDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Fabrizio LeoneDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Maurizio DelvecchioDepartment of Pediatrics, Policlinico Giovanni XXIII, Bari, Italy.
Emanuele AgoliniLaboratory of Medical Genetics, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Federica GalavernaDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Angela MastronuzziDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Daria PagliaraDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Maria Antonietta De IorisDepartment of Hematology/Oncology, Cell and Gene Therapy, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.
Bambino Gesù Children's Hospital · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITOspedale Pediatrico Giovanni XXIII · ITSapienza University of Rome · ITUniversity of Rome Tor Vergata · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We reported a new pathogenic variant of LRBA deficiency with a complex phenotype-neonatal diabetes, very early-onset inflammatory bowel disease, and polyarthritis-who presented with lymph node enlargement. A case of Rosai-Dorfman's disease (RDD) was confirmed. The occurrence of an RDD lesion in LRBA-deficiency has never been reported so far.

Indexed as

ArthritisHistiocytosis, SinusLymphadenopathyAdaptor Proteins, Signal TransducingHumansAdaptor Proteins, Signal TransducingLRBA protein, humanautoimmunityLRBA deficiencyneonatal diabetesprimary immunodeficienciesRosai-Dorfman’s disease

Identifiers

PMID36569874
PMCPMC9780374
OpenAlexW4311948139

What OpenQuestion holds

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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.