Evidence mapPaperPMID 42577193Full record

ArticleFrontiers in immunology2026

Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study.

Giorgio Costagliola, Filippo Consonni, Riccardo Castagnoli, Mayla Sgrulletti, Eleonora Gambineri, Giuliana Giardino, Federica Cavone, Davide Montin, Francesca Conti, Baldassarre Martire and 20 more

Abstract readMulticenter Study
In one paragraph

Article in Frontiers in immunology, 2026. 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

30 authors.

Giorgio CostagliolaSection of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Filippo ConsonniDepartment of Experimental and Clinical Biomedical Sciences "Mario Serio," University of Florence, Florence, Italy.
Riccardo CastagnoliPediatric Unit, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
Mayla SgrullettiPediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Eleonora GambineriDivision of Pediatric Oncology/Hematology, Meyer Children's Hospital IRCCS, Florence, Italy.
Giuliana GiardinoDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Federica CavoneSection of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Davide MontinDivision of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics Sciences, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.
Francesca ContiPediatric Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Baldassarre MartirePediatrics and Neonatology Unit, Maternal-Infant Department, "Monsignor A. R Dimiccoli" Hospital, Barletta, Italy.
Matteo ChinelloPediatric Hematology-Oncology, Department of Mother and Child, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy.
Irene D'AlbaPaediatric Haematology-Oncology, Maternal Infant Hospital "G. Salesi,", Ancona, Italy.
Francesco SaettiniCentro Tettamanti, Fondazione IRCCS San Gerardo Dei Tintori, Via Cadore, Monza, Italy.
Adele CivinoPediatric Rheumatology and Immunology, "Vito Fazzi" Hospital, Lecce, Italy.
Gian Luigi MarsegliaPediatric Unit, Department of Clinical, Surgical, Diagnostic and Pediatric Sciences, University of Pavia, Pavia, Italy.
Roberta RomanoDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Beatrice RivaltaResearch Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Fabiola GuerraPediatria, Fondazione IRCCS San Gerardo dei Tintori, Monza, Italy.
Emilia CirilloDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Lucia PacilloResearch Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Francesca CilloDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Laura GrilliDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Federico DiomedaPediatric Rheumatology and Immunology, "Vito Fazzi" Hospital, Lecce, Italy.
Mattia MorattiSpecialty School of Paediatrics - University of Bologna, Bologna, Italy.
Francesca RobastoDivision of Pediatric Immunology and Rheumatology, Department of Public Health and Pediatrics Sciences, Regina Margherita Children's Hospital, University of Turin, Turin, Italy.
Caterina CancriniResearch Unit of Primary Immunodeficiencies, Unit of Clinical Immunology and Vaccinology, IRCCS Bambino Gesù Children Hospital, Rome, Italy.
Gabriella CasazzaSection of Pediatric Hematology and Oncology, Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Claudio PignataDepartment of Translational Medical Sciences, Pediatric Section, University of Naples Federico II, Naples, Italy.
Viviana MoschesePediatric Immunopathology and Allergology Unit, Policlinico Tor Vergata, University of Rome Tor Vergata, Rome, Italy.
Rita ConsoliniSection of Clinical and Laboratory Immunology, University of Pisa, Pisa, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Hematologic immune dysregulation (H-ID) - including autoimmune cytopenia (AIC), lymphoproliferation (LPD), and hemophagocytic lymphohistiocytosis (HLH) - is a potentially life-threatening manifestation of inborn errors of immunity (IEI). Despite the availability of targeted therapies, its management remains challenging, with no standardized treatment strategies established. Objective: To evaluate the efficacy and safety of the available treatments for H-ID, with a specific focus on the treatment indications and outcome differences between targeted versus non-targeted therapies. Methods: This multicentric retrospective study included 116 patients with IEI and H-ID across Italian tertiary care centers. Data included treatment indications, response rate, and incidence of adverse events (AEs). Results: We included patients with autoimmune lymphoproliferative immunodeficiencies (ALPID, 37.1%), humoral immunodeficiencies (31%), syndromic IEI (8.6%), and combined immunodeficiencies (8.6%). H-ID consisted of AIC (67.2%), LPD (71.6%), and HLH (9.5%). 85.3% of patients received treatment, including on-demand therapies (37.9%), long-term treatments (LTT, 84.8%), and hematopoietic stem-cell transplantation (HSCT; 9.1%). LTT included sirolimus (42.9%), mycophenolate mofetil (34.5%), rituximab (29.8%), and targeted therapies (17.9%). Sirolimus showed a higher complete response (CR) rate (61.1%), especially in ALPID patients and those with lymphoproliferation (72%). CR rate was significantly higher in patients receiving targeted therapies (80% vs 43.4%, Conclusions: The indications for LTT and HSCT in H-ID are still heterogeneous. Response rates are variable and influenced by the underlying diagnosis. Targeted therapies are associated with an improved response, the suboptimal molecular diagnosis rate currently limits their use.

Indexed as

Lymphohistiocytosis, HemophagocyticAdolescentChildChild, PreschoolCytopeniaFemaleHumansInfantLymphoproliferative DisordersMaleRetrospective StudiesTreatment Outcomeabataceptautoimmune lymphoproliferative diseaseHSCTJAK inhibitorsleniolisibsirolimus

Identifiers

PMID42577193
PMCPMC13453812

What Socratic holds

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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 Socratic graph.