A5079068240- Immunodeficiency and Autoimmune Disorders
- Immune Cell Function and Interaction
- Blood disorders and treatments
- Vascular Malformations and Hemangiomas
- Health Systems, Economic Evaluations, Quality of Life
- Lymphoma Diagnosis and Treatment
- Neuroendocrine Tumor Research Advances
- Congenital heart defects research
- Viral-associated cancers and disorders
- Tumors and Oncological Cases
- Soft tissue tumors and treatment
- Chronic Lymphocytic Leukemia Research
- Gastrointestinal disorders and treatments
- Lymphadenopathy Diagnosis and Analysis
- T-cell and B-cell Immunology
- Tracheal and airway disorders
- Cardiovascular Conditions and Treatments
- Mycobacterium research and diagnosis
- CNS Lymphoma Diagnosis and Treatment
University of Rome Tor Vergata
2013-2016
Bambino Gesù Children's Hospital
2013-2016
BackgroundActivated phosphoinositide 3-kinase δ syndrome (APDS) is a recently described combined immunodeficiency resulting from gain-of-function mutations in PIK3CD, the gene encoding catalytic subunit of (PI3Kδ).ObjectiveWe sought to review clinical, immunologic, histopathologic, and radiologic features APDS large genetically defined international cohort.MethodsWe applied clinical questionnaire performed medical notes, radiology, histopathology, laboratory investigations 53 patients with...
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency of the humoral compartment, due to mutation in Bruton tyrosine kinase (BTK) gene, characterized by severe defect circulating B cells and serum immunoglobulins. Recurrent infections are main clinical manifestations; although they especially encapsulated bacteria, specific association with Campylobacter species has been reported. Here, we report case boy XLA who presented relapsing jejuni systemic infections. His history supports...
Human immunodeficiency virus (HIV) chronically infected patients are at increased risk of developing non-Hodgkin lymphoma compared with the general population. Highly active antiretroviral therapy has had a dramatic effect on natural history HIV infection, reducing incidence acquired syndrome-related and improving overall survival. However, problems related to adherence treatment, frequently experienced during adolescence, may increase cancers. Optimizing highly monitoring noncompliant...
Despite remarkable progress in diagnosis and understanding the pathogenesis of rare diseases, their management still remains very difficult reserved especially for specialized medical center. Skin disorders [(systemic phacomatosis pigmentovascularis (PPV) persistent lymphadenopathy (Kikuchi-Fujimoto disease (KFD)] are two conditions pediatric age. We describe an 11-year-old boy with congenital suffering from fever, nocturnal perspiration, fatigue, poor appetite right cervical...