Evidence map›Paper›PMID 36844186›Full record

ArticleHemaSphere2023

Autoimmune Lymphoproliferative Syndrome (ALPS) Disease and ALPS Phenotype: Are They Two Distinct Entities?

Elena Palmisani, Maurizio Miano, Alice Grossi, Marina Lanciotti, Michela Lupia, Paola Terranova, Isabella Ceccherini, Eugenia Montanari, Michaela Calvillo, Filomena Pierri and 19 more

Abstract read
In one paragraph

Article in HemaSphere, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing 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

9 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
  4. Article
  5. CD3Frontiers in immunology · 2025
    Review
  6. Article
  7. Review
  8. Review
  9. Frontiers in immunology · 2023
    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

29 authors.

Elena PalmisaniHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Maurizio MianoHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Alice GrossiGenetic Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Marina LanciottiHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Michela LupiaHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Paola TerranovaHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Isabella CeccheriniGenetic Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Eugenia MontanariHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Michaela CalvilloHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Filomena PierriHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Concetta MicalizziHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Rosario MaggioreHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Daniela GuardoHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Sabrina ZanardiHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Elena FacchiniClinic of Pediatric Hematology Oncology-Policlinico S. Orsola-Malpighi, Bologna, Italy.
Angela MaggioHaematology Unit-IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy.
Elena MastrodicasaPaediatric Onco-Haematology Unit-Ospedale Santa Maria della Misericordia, Perugia, Italy.
Paola CortiPediatric Clinic University of Milano-Bicocca, A.O.San Gerardo, Fondazione MBBM, Monza, Italy.
Giovanna RussoHaematology Unit, Pediatric Oncology, Catania, Italy.
Marta PillonPediatric Onco-Haematology Unit, Padova, Italy.
Piero FarruggiaPediatric Onco-Haematology A.R.N.A.S., Civico di Cristina e Benfratelli, Palermo, Italy.
Simone CesaroOnco-Haematology Unit, Azienda Ospedaliera Integrata, Verona, Italy.
Angelica BaronePediatric Onco-Haematology, Azienda Ospedaliera di Parma Ospedali Riuniti, Italy.
Francesca TosettiMolecular Oncology and Angiogenesis Unit-IRCCS Policlinico S. Martino, Genoa, Italy.
Ugo RamenghiHaematology Unit-Department of Public Health and Pediatrics, Ospedale Infantile Regina Margherita di Torino, Italy.
Nicoletta CrescenzioHaematology Unit-Department of Public Health and Pediatrics, Ospedale Infantile Regina Margherita di Torino, Italy.
Jack BleesingBone Marrow transplantation and Immunedficiencies Unit, Cincinnati Children Hospital Medical Center, Cincinnati, Ohio, USA.
Carlo DufourHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Francesca FioreddaHaematology Unit-IRCCS Istituto Giannina Gaslini, Genoa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autoimmune lymphoproliferative syndrome (ALPS) is an inherited disorder of lymphocyte homeostasis classically due to mutation of FAS, FASL, and CASP10 genes (ALPS-FAS/CASP10). Despite recent progress, about one-third of ALPS patients does not carry classical mutations and still remains gene orphan (ALPS-U, undetermined genetic defects). The aims of the present study were to compare the clinical and immunological features of ALPS-FAS/CASP10 versus those of ALPS-U affected subjects and to deepen the genetic characteristics of this latter group. Demographical, anamnestic, biochemical data were retrieved from medical record of 46 ALPS subjects. An enlarged panel of genes (next-generation sequencing) was applied to the ALPS-U group. ALPS-U subjects showed a more complex phenotype if compared to ALPS-FAS/CASP10 group, characterized by multiorgan involvement (

Identifiers

PMID36844186
PMCPMC9949771

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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.