Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study
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Le résumé fourni par la source
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%, p < 0.05). AEs were reported in 13.3% of cases, leading to drug withdrawal in 3.6%. 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.
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Le contrôle bibliographique ouvert
DOI retrouvé dans Crossref DOI retrouvé ; titre concordant.
- Titre Crossref
- Treating hematologic immune dysregulation in inborn errors of immunity: a real-life multicenter study
- Date Crossref
- 27/07/2026
- Éditeur
- Frontiers Media SA
- Type
- journal-article
Ce recoupement confirme des métadonnées liées au DOI. Il ne confirme ni la méthode ni les conclusions de l’étude, et il ne compte pas comme une seconde source scientifique indépendante.
Où se fait cette recherche
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Azienda Ospedaliera Universitaria Pisana pays non établi dans la noticeÉtablissement de santé
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European Society for Sexual Medicine pays non établi dans la noticeOrganisme public
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Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia pays non établi dans la noticeÉtablissement de santé
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University of Brescia Department of Clinical and Experimental Sciences pays non établi dans la noticeUniversité ou école supérieure
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Policlinico Tor Vergata pays non établi dans la noticeÉtablissement de santé
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Azienda Ospedaliera Universitaria Pisana, European Society for Sexual Medicine et Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia, avec 9 autres affiliations.
Une affiliation ne permet pas de déduire la nationalité d’un auteur.