Evidence map›Paper›PMID 39684891›Full record

ArticleInternational journal of molecular sciences2024

Multiple Tumors in a Patient with Interleukin-2-Inducible T-Cell Kinase Deficiency: A Case Report.

Michela Di Filippo, Ramona Tallone, Monica Muraca, Lisa Pelanconi, Francesca Faravelli, Valeria Capra, Patrizia De Marco, Marzia Ognibene, Simona Baldassari, Paola Terranova and 5 more

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

Article in International journal of molecular sciences, 2024. 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
–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

0 citing papers in PubMed.

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

15 authors.

Michela Di FilippoDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa, 16147 Genoa, Italy.
Ramona TalloneD.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.
Monica MuracaD.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0001-5259-7046
Lisa PelanconiDepartment of Neuroscience, Rehabilitation, Ophthalmology, Genetics and Maternal-Infantile Sciences, University of Genoa, 16147 Genoa, Italy.ORCID 0009-0001-2940-3255
Francesca FaravelliGenomics and Clinical Genetics, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.
Valeria CapraGenomics and Clinical Genetics, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0002-3097-0388
Patrizia De MarcoMedical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0001-8498-3750
Marzia OgnibeneMedical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0003-3698-9319
Simona BaldassariMedical Genetics Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0002-5304-3608
Paola TerranovaHematology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0002-4545-9873
Virginia LivellaraOncology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0009-0007-9630-9449
Valerio Gaetano VellonePathology Unit, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0002-5107-1584
Maurizio MianoHematology Unit, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.ORCID 0000-0002-9816-1704
Loredana AmorosoPediatric Oncology and Oncohematology Unit, Department of Maternal Infantile and Urological Sciences, Policlinico Umberto I, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0003-1950-4754
Andrea BeccariaD.O.P.O. Clinic, Department of Pediatric Hematology and Oncology, IRCCS Giannina Gaslini Institute, 16147 Genoa, Italy.

Funding

Italian Ministry of Health - Ricerca corrente 2024 RRC-2024-23684489
6 · The paper itself

Abstract

Immune dysregulation in Inborn Errors of Immunity (IEI) shows a broad phenotype, including autoimmune disorders, benign lymphoproliferation, and malignancies, driven by an increasing number of implicated genes. Recent findings suggest that childhood cancer survivors (CCSs) may exhibit immunological abnormalities potentially linked to an underlying IEI, along with a well-known increased risk of subsequent malignancies due to prior cancer treatments. We describe a patient with two composite heterozygous pathogenic variants in the interleukin-2-inducible T-cell kinase (

Indexed as

Protein-Tyrosine KinasesAdultEpstein-Barr Virus InfectionsHumansMaleNeoplasms, Multiple Primaryemt protein-tyrosine kinaseProtein-Tyrosine Kinasescase reportchildhood cancer survivors (CCS)inborn error of immunity (IEI)ITK deficiencymultiple tumors

Identifiers

PMID39684891
PMCPMC11642095

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Registered trials

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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.