Evidence map›Paper›PMID 39712011›Full record

ArticleFrontiers in immunology2024

Extra X, extra questions: Trisomy X syndrome and IgA deficiency - a case report.

Fabrizio Leone, Alessandra Gori, Bianca Laura Cinicola, Giulia Brindisi, Vittorio Maglione, Caterina Anania, Anna Maria Zicari

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in immunology, 2024. 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. 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

7 authors.

Fabrizio LeoneDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Alessandra GoriDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Bianca Laura CinicolaDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Giulia BrindisiDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Vittorio MaglioneDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Caterina AnaniaDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.
Anna Maria ZicariDepartment of Maternal Infantile and Urological Sciences, Sapienza University of Rome, Rome, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

While Trisomy X syndrome is typically characterized by developmental and cognitive variations, it is not commonly associated with immunodeficiencies. We report the unique case of a 6-year-old girl with Trisomy X presenting with selective IgA deficiency, challenging the conventional understanding of this chromosomal condition. The patient exhibited recurrent respiratory infections and gastrointestinal symptoms, evaluated in the context of her genetic background of Trisomy X and significantly low levels of IgA (0.03 g/L), yet normal IgG and IgM levels. Immunological assessment revealed a poor response to vaccination to HBV, necessitating an adapted vaccination strategy. Gastrointestinal investigations indicated paradoxical diarrhea secondary to chronic constipation, managed with dietary interventions. The presence of an extra X chromosome raises questions about the potential over-expression of genes that escape X-chromosome inactivation, such as

Indexed as

IgA DeficiencySex Chromosome AberrationsSex Chromosome Disorders of Sex DevelopmentTrisomyChildChromosomes, Human, XFemaleForkhead Transcription FactorsHumansImmunoglobulin ASex Chromosome DisordersForkhead Transcription FactorsFOXP3 protein, humanImmunoglobulin ACVIDFoxp3IgA deficiencyimmunodeficiencyTrisomy x

Identifiers

PMID39712011
PMCPMC11659227

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.