A5023448412- Acute Myeloid Leukemia Research
- Autoimmune and Inflammatory Disorders Research
- Acute Lymphoblastic Leukemia research
- Immune Cell Function and Interaction
- Hematopoietic Stem Cell Transplantation
- Mesenchymal stem cell research
- Histiocytic Disorders and Treatments
- Adolescent and Pediatric Healthcare
- Parvovirus B19 Infection Studies
- Lymphoma Diagnosis and Treatment
- Genetic and rare skin diseases.
- Neurogenetic and Muscular Disorders Research
- Bone and Joint Diseases
- TGF-β signaling in diseases
- Tumors and Oncological Cases
- RNA regulation and disease
Meyer Children's Hospital
2023-2025
University of Florence
2023-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2023
University of Milano-Bicocca
2015-2020
Genetic screening for severe congenital immuno-hematological diseases offers potential early intervention, particularly through preemptive allogeneic stem cell transplantation (HSCT). However, the clinical value of such depends on precise prognostic predictions based genotype-phenotype correlations and/or functional confirmation. We investigated familial hemophagocytic lymphohistiocytosis type 2 (FHL2), caused by PRF1 variants. Specifically we evaluated significance frequent A91V variant, if...
Summary ETV6‐RUNX1 (E/R) fusion gene, arising in utero from translocation t(12;21)(p13:q22), is the most frequent alteration childhood acute lymphoblastic leukemia (ALL). However, E/R insufficient to cause overt since it generates a clinically silent pre‐leukemic clone which persists bone marrow but fails out‐compete normal progenitors. Conversely, cells show increased susceptibility transformation following additional genetic insults. Infections/inflammation are accredited triggers for...
Primary hemophagocytic lymphohistiocytosis (pHLH) is a severe, life-threatening hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway. Here we investigated clinical presentation and outcome large cohort 143 patients with pHLH diagnosed last 15 years enrolled Italian registry. The median age at diagnosis was 12 months (IQR 2-81), ninety-two (64%) fulfilled HLH-2004 criteria. Out 111 who received first-line combined therapy (HLH-94, HLH-2004, Euro-HIT...
Background: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and severe hyperinflammatory syndrome caused by defects in genes of the granule-dependent cytotoxic pathway NK or CD8 T cells. The clinical presentation frequently complicated multiorgan failure mortality rate high. Hematopoietic stem cell transplantation (HSCT) only curative treatment, but intensive treatments, including chemotherapy novel targeted approaches, are required to induce remission before HSCT. Aims: To...