Evidence map›Paper›PMID 38769568›Full record

ReviewItalian journal of pediatrics2024

Activated phosphoinositde 3-kinase (PI3Kδ) syndrome: an Italian point of view on diagnosis and new advances in treatment.

Vassilios Lougaris, Federico Le Piane, Caterina Cancrini, Francesca Conti, Alberto Tommasini, Raffaele Badolato, Antonino Trizzino, Marco Zecca, Antonio De Rosa, Federica Barzaghi and 1 more

Abstract readReview
In one paragraph

Review in Italian journal of pediatrics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Observational
  6. 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

11 authors.

Vassilios LougarisPediatrics Clinic, Department of Clinical and Experimental Sciences, University of Brescia, Azienda Socio Sanitaria Territoriale Spedali Civili di Brescia, Brescia, Italy.
Federico Le PianeScientific Department Planning Congressi Srl, Bologna, Italy.
Caterina CancriniDepartment of System Medicine, Pediatric Chair, University of Tor Vergata, Rome, Italy.
Francesca ContiPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria Di Bologna, Bologna, Italy.
Alberto TommasiniDepartment of Medical, Surgical and Health Sciences, University of Trieste, Trieste, 34137, Italy.
Raffaele BadolatoDepartment of Pediatrics, Università di Brescia, Istituto di Medicina Molecolare Angelo Nocivelli", ASST Spedali Civili, Brescia, Italy.
Antonino TrizzinoDepartment of Pediatric Hematology and Oncology, ARNAS Ospedali Civico Di Cristina Benfratelli Hospital, Palermo, Italy.
Marco ZeccaPaediatric Haematology and Oncology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Antonio De RosaDepartment of Translational Medical Sciences, Università degli Studi di Napoli "Federico II", Naples, 80125, Italy.
Federica BarzaghiSan Raffaele Telethon Institute for Gene Therapy (Sr-Tiget), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Ospedale San Raffaele, Milan, Italy.
Claudio PignataDepartment of Translational Medical Sciences, Università degli Studi di Napoli "Federico II", Naples, 80125, Italy. pignata@unina.it.

Funding

Pharming Group N.V. Pharming Group N.V.
6 · The paper itself

Abstract

Activated phosphoinositide 3-kinase (PI3Kδ) Syndrome (APDS) is an inborn error of immunity (IEI) with a variable clinical presentation, characterized by infection susceptibility and immune dysregulation that may overlaps with other Primary Immune Regulatory Disorders (PIRDs). The rarity of the disease, its recent discovery, and the multiform /multifaced clinical presentation make it difficult to establish a correct diagnosis, especially at an early stage. As a result, the true prevalence of the pathology remains unknown. There is no treatment protocol for APDS, and drug therapy is primarily focused on treating symptoms. The most common therapies include immunoglobulin replacement therapy, antimicrobial prophylaxis, and immunosuppressive drugs. Hematopoietic stem cell transplantation (HSCT) has been used in some cases, but the risk-benefit balance remains unclear. With the upcoming introduction of specific medications, such as selective inhibitors for PI3Kδ, clinicians are shifting their attention towards target therapy.This review provides a comprehensive overview of APDS with a focus on diagnostic and treatments procedures available. This review may be useful in implementing strategies for a more efficient patients' management and therapeutic interventions.Main Text.

Indexed as

Class I Phosphatidylinositol 3-KinasesPrimary Immunodeficiency DiseasesHematopoietic Stem Cell TransplantationHumansItalyClass I Phosphatidylinositol 3-KinasesPIK3CD protein, humanAPDSEBVESIDIEILeniolisibLymphomaNGSPI3KδSirolimus

Identifiers

PMID38769568
PMCPMC11106885

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.