Ataluren improves hematopoietic and pancreatic disorders in Shwachman-Diamond syndrome patients: a compassionate program case-series.

Shwachman-Diamond syndrome (SDS) is characterized by exocrine pancreatic insufficiency, neutropenia, and a high risk of myeloid malignancy. Most patients with SDS harbor nonsense mutations in Shwachman-Bodian-Diamond syndrome gene (SBDS), which encodes a ribosome assembly factor. We investigated the translational read-through effect of ataluren in three patients with SDS undergoing a compassionate use program for twelve months.

Community-acquired respiratory virus infections in patients with haematological malignancies or undergoing haematopoietic cell transplantation: updated recommendations from the 10th European Conference on Infections in Leukaemia.

To update recommendations of the 4th European Conference on Infections in Leukaemia (ECIL-4) on community-acquired respiratory virus (CARV) infections published in 2013, we reviewed publications from between Jan 1, 2014, and June 30, 2024 on adenovirus, bocavirus, coronavirus, influenzavirus, metapneumovirus, parainfluenzavirus, respiratory syncytial virus (RSV), and rhinovirus in patients with haematological malignancies or undergoing haematopoietic cell transplantation (HCT), or both. In the current ECIL recommendations (ECIL-10), we outline a common approach to infection control, laboratory testing, and diagnosis for all CARVs (including SARS-CoV-2) and specific management and deferral strategies for CARVs other than SARS-CoV-2. For influenzavirus, seasonal inactivated-vaccines and early antivirals are recommended, whereas routine antiviral prophylaxis is discouraged for immunocompromised patients.

A survey on the practices and the management of hemorrhagic cystitis in patients who undergo allogeneic hematopoietic stem cell transplantation, on behalf of the Infectious Diseases Working Party of EBMT.

This survey reports on the current practice and management of hemorrhagic cystitis (HC) among the EBMT centers. The survey response rate was 27%. The diagnostic search of BK polyomavirus (BKPyV) was available in 93% of centers and performed in urine (100%), blood/plasma (51%), and serum (12%).

Expert consensus on the management of cytomegalovirus infection in pediatric allogeneic hematopoietic stem cell transplantation.

Cytomegalovirus (CMV) infection is the most frequent viral complication after allogeneic hematopoietic stem cell transplantation (allo-HSCT). In the pediatric setting, several issues on its management are still debated due to the limited evidence compared to adults. The aim of this consensus was to promote harmonization of practices to improve prevention, control and treatment of CMV infection in children and adolescents.

Defining bloodstream and central venous catheter-related infections in patients following haematopoietic cell transplantation: position paper of the European Blood and Marrow Transplantation Society Infectious Diseases Working Party and Practice Harmonization and Guidelines Committee.

Scope: This position paper is intended for clinicians and data managers involved in the diagnosis, management, and reporting of bloodstream infection (BSI) and central venous catheter (CVC)-related BSI and CVC-related local skin/soft-tissue infections (lSSTI) in haematopoietic cell transplant (HCT) recipients.

Methods: The panel reviewed the relevant guidelines on BSI and CVC-related lSSTI definitions, and their applicability to HCT recipients. We developed practical recommendations aiming to establish their standardized reporting considering the unique features of HCT recipients.

Outcomes of children with haematological malignancies given second haploidentical haematopoietic stem cell transplantation with either TCRαβ/CD19 depletion or post-transplant cyclophosphamide.

Human leukocyte antigen (HLA)-haploidentical haematopoietic cell transplantation (haplo-HCT) is a suitable salvage strategy in children with haematological malignancies experiencing either relapse or graft failure (GF) after the first HCT. Data comparing outcomes of transplant strategies using either TCRαβ/CD19 depletion (TCRαβ) or post-transplant cyclophosphamide (PTCy) are currently lacking. This retrospective, multicentre study included children with haematological malignancies who received a second haplo-HCT, in which either TCRαβ depletion or PTCy was used as the graft-versus-host disease (GvHD) prophylaxis strategy.

Long-Term Outcome of Fanconi Anemia Patients From the Italian Registry on Behalf of the Marrow Failure Study Group of the AIEOP (Italian Association for Pediatric Haematology-Oncology).

We analyzed 193 Fanconi anemia patients from the Italian Registry, focusing on hematological outcome, cancer risk, and mortality, both in transplanted (n = 130, 67.4% of the cohort) and non-transplanted (n = 63, 36.6% of the cohort) patients.

To proceed or delay? The dilemma of community-acquired respiratory viruses in adults and pediatrics before allogeneic stem cell transplantation and chimeric-antigen-receptor T-cell therapy.

Purpose Of Review: This review explores the impact of community-acquired respiratory virus (CARV) infections on outcomes before proceeding with hematopoietic cell transplantation (HCT) and chimeric-antigen-receptor T-cell (CAR-T) therapy recipients and which conditions should be considered to delay or proceed with cell therapy. It aims to assess current practices, the risks associated with early CARV infections in cell therapy recipients, and potential modifications to reduce complications and improve clinical outcomes if delay is not an option.

Recent Findings: Studies have shown that pretransplant CARV infections, particularly those with symptomatic lower respiratory tract disease (LRTD), are linked to increased mortality and prolonged hospitalization after hematopoietic stem cell transplant.

Clinical characteristic and outcome of HHV-6 encephalitis after allogeneic hematopoietic cell transplantation: A study of Infectious Disease Working Party of EBMT.

Human herpes virus-6 (HHV-6) is the main cause of viral encephalitis in patients undergoing allogeneic hematopoietic cell transplantation (allo-HCT). From January 2005 to December 2014, 97 patients with HHV-6 encephalitis were reported in the EBMT registry. The incidence was 0.

Post-pandemic recommendations for the management of COVID-19 in patients with haematological malignancies or undergoing cellular therapy, from the European Conference on Infections in Leukaemia (ECIL-10).

In the post-pandemic years, SARS-CoV-2 morbidity and mortality declined due to less pathogenic variants, active and passive immunization, and antiviral therapies. However, patients with hematological malignancies and/or undergoing hematopoietic cell transplantation (HCT) remain at increased risk for poor outcomes. Therefore, adherence to contact and droplet precautions is essential to avoid transmission, especially during epidemic waves.

Clinical Impact of Graft Cryopreservation on Allogeneic Stem Cell Transplantation: An Italian, Registry-Based Study on Behalf of the "Gruppo Italiano Per Il Trapianto di Midollo Osseo, Cellule Staminali Emopoietiche e Terapia Cellulare" (GITMO).

The coronavirus disease 2019 (COVID-19) pandemic created major challenges for allogeneic hematopoietic stem cell transplantation (allo-HSCT). Scientific societies and authorities recommended cryopreserving grafts before starting conditioning regimens, despite limited data on the clinical impact. The Italian Group for Bone Marrow Transplantation (GITMO) conducted a registry-based study involving 3492 patients who underwent allo-HSCT between March 2018 and September 2021.

Food Safety Practices and Foodborne Illness in Italian Pediatric Oncology and Hematology Centers: A Survey on Behalf of the Infectious Disease Working Group of AIEOP.

Background: Food safety practices are widely recommended for pediatric patients with cancer or undergoing hematopoietic stem cell transplantation (HCT) to mitigate foodborne infectious risks. However, specific measures, such as the neutropenic diet (ND) or low-microbial diet, lack robust evidence and are inconsistently implemented across pediatric hematology-oncology centers. Additionally, data on foodborne illnesses (FBI) in this population remain scarce.

Case Report: Activated PI3-kinase-δ syndrome and ovarian malignancies: a case series from the European ESID-APDS registry.

Activated phosphoinositide-3-kinase-delta (PI3Kδ) syndrome (APDS) is an autosomal dominant inborn error of immunity (IEI) characterized by combined immunodeficiency and immune dysregulation with increased risk for lymphoma and other non-lymphoid malignancies. We describe five patients with ovarian malignancies among 110 female APDS patients participating in the European Society for Immunodeficiencies (ESID) registry and identified three additional cases in the literature. These findings document a relevant predisposition to these non-hematological malignancies in APDS patients.

Case Report: Severe hemophilia B patient with inhibitor and anaphylaxis reaction to FIX, successfully managed with concizumab prophylaxis therapy.

Background: Hemophilia B is a rare X-linked disorder characterized by factor IX (FIX) deficiency, leading to spontaneous bleeding episodes predominantly affecting joints and muscles. Severe cases with FIX activity levels below 1% can develop inhibitors, rendering replacement therapy ineffective and posing additional challenges such as allergic or anaphylactic reactions to FIX infusions. Novel non-factor therapies, including concizumab, offer alternative strategies by targeting tissue factor pathway inhibitor (TFPI), a key regulator of coagulation.

Underlying disease is the main risk factor in post-splenectomy complication risk: Data from a national database.

Splenectomy is required for many haematological conditions and causes an increased risk of severe infections and vascular events. The association between underlying haematological disease, age at splenectomy and post-splenectomy complications was explored among 1348 splenectomized patients, followed with a median follow-up time of 13 years and affected by transfusion-dependent thalassaemia, non-transfusion-dependent thalassaemia (NTDT), sickle cell anaemia (SCA), congenital haemolytic anaemias, autoimmune haematological disorders and trauma. Our main statistical approach was based on interaction analyses within competing-risk survival models.

Invasive Fungal Infection by with Cerebral Involvement in a Pediatric Patient Affected by Chronic Granulomatous Disease After Hematopoietic Cell Transplant.

A 5-year-old boy affected by chronic granulomatous disease (CGD) underwent two allogeneic hematopoietic cell transplants (HCT) from the same unrelated donor. The first HCT was complicated by prolonged fever and primary graft failure. While fully aplastic, the patient developed a disseminated infection by involving the knee and parasternal skin (day +34 and +40 post-HCT).

Diagnostic accuracy of liver stiffness measurement for the diagnosis of veno-occlusive disease/sinusoidal obstruction syndrome after hematopoietic stem cell transplantation (HSCT), the ELASTOVOD STUDY: an investigator-initiated, prospective, multicentre diagnostic clinical trial.

Hepatic Veno-occlusive disease/sinusoidal obstruction syndrome (VOD/SOS) is a severe complication following hematopoietic stem cell transplantation (HSCT), traditionally diagnosed based on clinical criteria. This study aimed to evaluate the diagnostic performance of liver stiffness measurement (LSM) as a non-invasive tool for non invasive diagnosis of VOD/SOS. A multicentre clinical trial was conducted in Italy from April 2018 to December 2021, screening 1089 patients across 25 centers.

Pneumonia definition in allogeneic hematopoietic cell transplant recipients: Update and challenges in 2024. Recommendations from the EBMT Infectious Diseases Working Party and Practice Harmonization and Guidelines committee.

To optimize and homogenize data on infectious diseases complications, the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation (IDWP EBMT) participated in the 2023 EBMT international workshop focusing on the standardization of the definition of specific infections, including respiratory infections [1]. This is pertinent considering that a new software for data collection, including data on post-transplant infectious disease complications, was launched in 2023 and which will remain the main tool for future epidemiological studies. In this report, we briefly discuss our proposals for pneumonia definition, predominately focusing on bacterial and fungal pneumonias.

Donor-specific anti-HLA antibodies (DSAs) in patients undergoing allogeneic hematopoietic stem cell transplantation from mismatched donors on behalf of GITMO and AIBT.

Background: Antibodies directed against donor-specific HLA allele(s)/antigen(s) (DSAs) represent a known risk factor for hematopoietic stem cell transplantation (HSCT) engraftment. Still, the overall management needs to be standardized.

Material And Methods: GITMO and AIBT ran a survey on DSAs in Italian Transplant Programs including mismatched HSCT performed between January 2014 and June 2017.

Pitfalls in definitions on respiratory viruses and particularities of Adenovirus infection in hematopoietic cell transplantation patients: Recommendations from the EBMT practice harmonization and guidelines committee.

In 2023, the EBMT Practice harmonization and Guidelines Committee partnered with the EBMT Infection Diseases Working Party (IDWP) to undertake the task of delivering best practice recommendations, aiming to harmonize by expert consensus, the already existing definitions and future epidemiological and clinical studies among centers of the EBMT network. To attain this objective, a group of experts in the field was convened. The workgroup identified and discussed some critical aspects in definitions of community-acquired respiratory viruses (CARV) and adenovirus (ADV) infections in recipient of hematopoietic cell transplant (HCT).

Adenovirus infections after allogeneic hematopoietic cell transplantation in children and adults: a study from the Infectious Diseases Working Party of the European Society for Blood and Marrow Transplantation.

The objective of the study was the analysis of clinical types, outcomes, and risk factors associated with the outcome of adenovirus (ADV) infection, in children and adults after allo-HCT. A total number of 2529 patients (43.9% children; 56.