Evidence map›Paper›PMID 36969289›Full record

ArticleFrontiers in pediatrics2023

Case report:

María Soledad Caldirola, Analía Gisela Seminario, Paula Carolina Luna, Renata Curciarello, Guillermo Horacio Docena, Nicolás Fernandez Escobar, Guillermo Drelichman, Marco Gattorno, Adriana A de Jesus, Raphaela Goldbach-Mansky and 2 more

Open access · goldFull text readCase Reports
In one paragraph

Article in Frontiers in pediatrics, 2023. 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
0.5field-weighted citation impact, top 34% 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, 3 citations in OpenAlex.

  1. Systemic Sclerosis in Kazakh Patients: A Preliminary Case-Control Immunogenetic Profiling Study.Pathophysiology : the official journal of the International Society for Pathophysiology · 2025
    Article
  2. 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

12 authors at 5 institutions in 3 countries.

María Soledad CaldirolaServicio de Inmunología, "Hospital de Niños "Dr. Ricardo Gutiérrez," Buenos Aires, Argentina.
Analía Gisela SeminarioServicio de Inmunología, "Hospital de Niños "Dr. Ricardo Gutiérrez," Buenos Aires, Argentina.
Paula Carolina LunaServicio de Dermatología, Hospital Alemán, Buenos Aires, Argentina.
Renata CurciarelloInstituto de Estudios Inmunológicos y Fisiopatológicos (IIFP)-CONICET-UNLP, Dto. de Cs Biológicas, Facultad de Ciencias Exactas, La Plata, Buenos Aires, Argentina.
Guillermo Horacio DocenaInstituto de Estudios Inmunológicos y Fisiopatológicos (IIFP)-CONICET-UNLP, Dto. de Cs Biológicas, Facultad de Ciencias Exactas, La Plata, Buenos Aires, Argentina.
Nicolás Fernandez EscobarUnidad de Trasplante de Médula Ósea-Fundación Favaloro, Buenos Aires, Argentina.
Guillermo DrelichmanUnidad de Trasplante de Médula Ósea-Fundación Favaloro, Buenos Aires, Argentina.
Marco GattornoUOC Reumatologia e Malattie Autoinfiammatorie, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Adriana A de JesusTranslational Autoinflammatory Diseases Section, NIAID/NIH, Bethesda, MD, United States.
Raphaela Goldbach-ManskyTranslational Autoinflammatory Diseases Section, NIAID/NIH, Bethesda, MD, United States.
María Isabel GaillardServicio de Inmunología, "Hospital de Niños "Dr. Ricardo Gutiérrez," Buenos Aires, Argentina.
Liliana BezrodnikCentro de Inmunología Clínica Dra. Bezrodnik y equipo, Buenos Aires, Argentina.
Hospital General de Niños Ricardo Gutierrez · ARConsejo Nacional de Investigaciones Científicas y Técnicas · ARNational Institutes of Health · USHospital Alemán · ARIstituti di Ricovero e Cura a Carattere Scientifico · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

During recent years, the identification of monogenic mutations that cause sterile inflammation has expanded the spectrum of autoinflammatory diseases, clinical disorders characterized by uncontrolled systemic and organ-specific inflammation that, in some cases, can mirror infectious conditions. Early studies support the concept of innate immune dysregulation with a predominance of myeloid effector cell dysregulation, particularly neutrophils and macrophages, in causing tissue inflammation. However, recent discoveries have shown a complex overlap of features of autoinflammation and/or immunodeficiency contributing to severe disease phenotypes. Here, we describe the first Argentine patient with a newly described frameshift mutation in

Indexed as

autoinflammatory syndromesCANDLE-like syndromecase reportprimary immunodeficienciesSAMD9Lsterile alpha motif domain containing 9 like

Identifiers

PMID36969289
PMCPMC10036571
OpenAlexW4323859440

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read23
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.