Evidence map›Paper›PMID 35572607›Full record

ArticleFrontiers in immunology2022

Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.

Boaz Palterer, Lorenzo Salvati, Manuela Capone, Valentina Mecheri, Laura Maggi, Alessio Mazzoni, Lorenzo Cosmi, Nila Volpi, Lucia Tiberi, Aldesia Provenzano and 8 more

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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.3field-weighted citation impact, top 46% 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

8 citing papers in PubMed, 4 citations in OpenAlex.

  1. Review
  2. Pulmonary alveolar proteinosis andFrontiers in pediatrics · 2026
    Article
  3. Article
  4. Article
  5. Article
  6. Case Report:Frontiers in immunology · 2025
    Article
  7. Article
  8. 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

18 authors at 5 institutions in 1 country.

Boaz PaltererDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Lorenzo SalvatiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Manuela CaponeDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Valentina MecheriDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Laura MaggiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Alessio MazzoniDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Lorenzo CosmiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Nila VolpiUnit of Neurology and Neurophysiology, Department of Medical, Surgical and Neurological Sciences, University of Siena, Siena, Italy.
Lucia TiberiDepartment of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
Aldesia ProvenzanoDepartment of Biomedical Experimental and Clinical Sciences "Mario Serio", University of Florence, Florence, Italy.
Sabrina GiglioMedical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy.
Paola ParronchiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Giandomenico MaggioreDepartment of Otorhinolaryngology, Careggi University Hospital, Florence, Italy.
Oreste GalloDepartment of Otorhinolaryngology, Careggi University Hospital, Florence, Italy.
Alessandro BartoloniInfectious and Tropical Diseases Unit, Careggi University Hospital, Florence, Italy.
Francesco AnnunziatoDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Lorenzo ZammarchiDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
Francesco LiottaDepartment of Experimental and Clinical Medicine, University of Florence, Florence, Italy.
University of Florence · ITAzienda Ospedaliero-Universitaria Careggi · ITMeyer Children's Hospital · ITUniversity of Cagliari · ITUniversity of Siena · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

X-linked hyper-IgM (XHIGM) syndrome is caused by mutations of the CD40LG gene, encoding the CD40L protein. The clinical presentation is characterized by early-onset infections, with profound hypogammaglobulinemia and often elevated IgM, susceptibility to opportunistic infections, such as

Indexed as

AgammaglobulinemiaCryptosporidiosisCryptosporidiumHyper-IgM Immunodeficiency SyndromeHyper-IgM Immunodeficiency Syndrome, Type 1LeishmaniasisAdultCD40 LigandHumansImmunoglobulin MMaleCD40 LigandImmunoglobulin MCD40LG geneCD40LG mutationCPT2 deficiencyCPT2 genehyper-IgM immunodeficiency syndromeLeishmanialeishmaniasisWES - whole-exome sequencing

Identifiers

PMID35572607
PMCPMC9096836
OpenAlexW4285742158

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.