Lucia Dora Notarangelo
A5069417543- Immunodeficiency and Autoimmune Disorders
- Blood disorders and treatments
- Blood groups and transfusion
- Platelet Disorders and Treatments
- Cell Adhesion Molecules Research
- Erythrocyte Function and Pathophysiology
- Cellular Mechanics and Interactions
- Hemoglobinopathies and Related Disorders
- Chemokine receptors and signaling
- Chronic Lymphocytic Leukemia Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Blood properties and coagulation
- Immune Cell Function and Interaction
- Iron Metabolism and Disorders
- T-cell and B-cell Immunology
- Immunotherapy and Immune Responses
- Cytomegalovirus and herpesvirus research
- Parvovirus B19 Infection Studies
- Hemophilia Treatment and Research
- Ethics and Legal Issues in Pediatric Healthcare
- Neutropenia and Cancer Infections
- Immune Response and Inflammation
- Hematopoietic Stem Cell Transplantation
- melanin and skin pigmentation
- Gastrointestinal disorders and treatments
Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia
2014-2024
University of Brescia
2006-2022
Associazione Italiana Ematologia Oncologia Pediatrica
2018-2022
National Institutes of Health
2002-2021
National Institute of Allergy and Infectious Diseases
2021
Ospedale dei Bambini Vittore Buzzi
2005-2019
Istituto Giannina Gaslini
2019
Istituti di Ricovero e Cura a Carattere Scientifico
2019
Boston Children's Hospital
2015
Children's Hospital
2015
<h3>Background</h3> Immunodysregulation polyendocrinopathy enteropathy x-linked (IPEX) syndrome is a monogenic autoimmune disease caused by <i>FOXP3</i> mutations. Because it rare disease, the natural history and response to treatments, including allogeneic hematopoietic stem cell transplantation (HSCT) immunosuppression (IS), have not been thoroughly examined. <h3>Objective</h3> This analysis sought evaluate onset, progression, long-term outcome of 2 main treatments in IPEX survivors....
A patient with leukocyte adhesion deficiency type 1 (LAD1) had severe periodontitis and an intractable, deep, nonhealing sacral wound. We previously found a dominant interleukin-23-interleukin-17 signature at inflamed sites in humans LAD1 mouse models of the disorder. Blockade this pathway has resulted resolution immunopathologic condition. treated our ustekinumab, antibody that binds p40 subunit interleukin-23 interleukin-12 thereby blocks activity these cytokines, inhibiting...
Several immunodeficiencies are associated with high susceptibility to persistent and progressive human papillomavirus (HPV) infection leading a wide range of cutaneous mucosal lesions. However, the HPV types most commonly such clinical manifestations in these patients have not been systematically defined. Here, we used virion enrichment, rolling circle amplification, deep sequencing identify circular DNA viruses present skin swabs and/or wart biopsy samples from 48 rare genetic...
Immune thrombocytopenia (ITP) is an acquired immune-mediated bleeding disorder characterized by isolated thrombocytopenia. Its estimated yearly incidence in the pediatric population 1.9-6.4/100,000. ITP children usually a self-limiting and benign disorder. The clinical management of with often remains controversial, as robust randomized trials on this are lacking. Treatments vary widely practice existing guidelines from hematology societies offer indications based largely expert opinion...
BackgroundThrombocytopenia is a serious issue for all patients with classical Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) because it causes severe life-threatening bleeding. Lentiviral gene therapy (GT) WAS has shown promising results in terms of immune reconstitution. However, despite the reduced severity frequency bleeding events, platelet counts remain low GT-treated patients.ObjectiveWe carefully investigated defects phenotype function untreated assessed effect GT...
SMARCA4 chromatin remodelling factor is mutated in 11% of Coffin-Siris syndrome (CSS) patients and almost all small-cell carcinoma the ovary hypercalcaemic type (SCCOHT) tumours. Missense mutations with gain-of-function or dominant-negative effects are associated CSS, whereas inactivating mutations, leading to loss expression, have been exclusively found SCCOHT. We applied whole-exome sequencing study a 15-year-old patient mild CSS who concomitantly developed SCCOHT at age 13 years....
Background: the thrombopoietin receptor agonist eltrombopag has been shown to be safe and effective for children with chronic immune thrombocytopenia (ITP). The aim of present study was characterize use in current clinical practice. Material methods: This is a retrospective multicentre conducted 17 centres affiliated Italian Association Pediatric Haematology Oncology (AIEOP). primary objective determine prevalence affected by ITP, after EMA authorization pediatric age. secondary assess...
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is an autosomal-recessive syndrome defined by two of the following conditions: chronic mucocutaneous candidiasis, hypoparathyroidism, or Addison's disease. Other autoimmune conditions may be associated, such as hypothyroidism, hypogonadism, insulin-dependent diabetes mellitus, active hepatitis, pernicious anemia, vitiligo, alopecia, biliary cirrhosis, and ectodermal dysplasia. APECED caused mutations in regulator gene,...
The lack of adenosine deaminase (ADA) leads to the accumulation toxic metabolites, resulting in SCID. If disease is left untreated, it likely have a fatal outcome early infancy. Because hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy with pegylated bovine ADA (PEG-ADA) are both provided our hospital, we undertook retrospective longitudinal comparative study extent lymphocyte recovery two groups treated ADA-SCID children. Together classical immunological...
Abstract Background The eradication of Helicobacter pylori has been associated with remission immune thrombocytopenia (ITP) in approximately half eradicated patients. Data on children are limited to small case series. Procedure Children from 16 centers Italy, who were less than 18 years age and diagnosed chronic ITP (cITP), screened for H. infection. Positive patients underwent standard triple therapy amoxicillin, clarithromycin, omeprazole. response was defined as follows: complete...