Report of the Italian Cohort with Activated Phosphoinositide 3-Kinase δ Syndrome in the Target Therapy Era.

Background: Activated Phosphoinositide 3-Kinase (PI3K) δ Syndrome (APDS), an inborn error of immunity due to upregulation of the PI3K pathway, leads to recurrent infections and immune dysregulation (lymphoproliferation and autoimmunity).

Methods: Clinical and genetic data of 28 APDS patients from 25 unrelated families were collected from fifteen Italian centers.

Results: Patients were genetically confirmed with APDS-1 (n = 20) or APDS-2 (n = 8), with pathogenic mutations in the PIK3CD or PIK3R1 genes.

Patient Blood Management in pediatric and adolescent bone marrow donors: results from an Italian survey.

Background: Current national and international guidelines (Italian Bone Marrow Donor Registry [IBMDR], World Marrow Donor Association [WMDA] standards) provide an indication for preoperative autologous blood donation (PAD) only in adult family and volunteer non-family donors in anticipation of bone marrow (BM) hematopoietic stem cell (HSC) donation to avoid the use of homologous transfusions. In addition, there is no clear guidance from the relevant scientific societies regarding pediatric and adolescent donors.

Material And Methods: To assess the actual use of PAD in pediatric (up to 14 years) and adolescent (aged 15-18 years) family donors in relation to BM HSC donation in the five years 2017-2021, a specific online questionnaire was administered to blood establishments and clinical units of pediatric transplantation programs responsible for BM HSC collection.

Outcomes of patients undergoing allogeneic haematopoietic stem cell transplantation for congenital amegakaryocytic thrombocytopenia; a study on behalf of the PDWP of the EBMT.

Congenital amegakaryocytic thrombocytopenia is a rare, inherited bone marrow failure syndrome. Allogeneic haematopoietic stem cell transplantation (allo-HSCT) is currently the only curative treatment. In this retrospective study, we analysed 66 patients with allo-HSCT, reported in the European Society for Blood and Marrow Transplantation (EBMT) registry.

Survival rates and extra-regional migration patterns of children and adolescents with cancer in Italy: The 30-year experience of the Italian Association of Pediatric Hematology and Oncology (AIEOP) with the Italian hospital-based registry of pediatric cancer (Mod. 1.01).

Since the 1970s, Italian pediatric oncologists have collaborated through the Italian Association for Pediatric Hematology Oncology (AIEOP) network using a common centralized system for the registration of childhood cancer, known as Model 1.01 (Mod. 1.