nctId: NCT06332196 id: L-IEI briefTitle: Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas overallStatus: RECRUITING date: 2023-10-18 date: 2025-06-18 date: 2025-10-18 date: 2024-03-27 date: 2024-03-27 name: Meyer Children's Hospital IRCCS class: OTHER briefSummary: Inborn Errors of Immunity (IEI) are a heterogeneous group of disorders characterised not only by an infectious diathesis, but by a wide variety of other clinical manifestations. Lymphoma is one of the most common malignancies in children and may be the first clinical manifestation of IEI, thereby 'hiding' the immune defect and delaying genetic/immunological diagnosis. Lymphomas, especially non-Hodgkin's lymphomas (NHL) are frequently associated with congenital defects of the immune system, in particular diffuse large B-cell lymphoma and Burkitt's lymphoma. Preliminary analyses conducted on 6 patients diagnosed with NHL allowed the identification of genetic variants in genes associated with IEI. In clinical practice, the diagnosis and choice of therapeutic treatment in patients with immunodeficiency-associated lymphoma are decisive and, due to the complex pathophysiology of the disease, it is not always possible to identify the boundary between benign and malignant proliferation. The identification of an undiagnosed immunodeficiency in patients with lymphoma will ensure the opportunity to apply targeted therapies, such as allogeneic haematopoietic stem cell transplantation, instead of standard clinical management based mainly on chemotherapy. The study aims to identify possible congenital defects of immunity, i.e. genetic disorders affecting the immune system, as responsible for the development of haematological malignancies. Through a multidisciplinary approach involving immunological analyses, genetic analyses and a thorough examination of clinical manifestations, we aim to characterise the immunological component underlying the development of paediatric lymphomas. conditions: Immune Deficiency studyType: INTERVENTIONAL phases: NA allocation: NA interventionModel: SINGLE_GROUP interventionModelDescription: Patients diagnosed with non-Hodgkin's lymphoma (NHL) or Hodgkin's lymphoma (HL) aged and patients with previous lymphoma and signs of immunodeficiency primaryPurpose: DIAGNOSTIC masking: NONE count: 50 type: ESTIMATED name: Analysis of biological sample and clinical data measure: To unravel inborn error of immunity behind Lymphoid neoplasm in children measure: Identification of lymphoma-specific biomarkers sex: ALL minimumAge: 1 Day maximumAge: 24 Years stdAges: CHILD stdAges: ADULT facility: AOU Malpighi IRCCS status: ACTIVE_NOT_RECRUITING city: Bologna country: Italy lat: 44.49381 lon: 11.33875 facility: Meyer Children's Hospital IRCCS status: RECRUITING city: Florence country: Italy name: Eleonora Gambineri role: CONTACT email: eleonora.gambineri@meyer.it lat: 43.77925 lon: 11.24626 facility: AOU Pisana status: ACTIVE_NOT_RECRUITING city: Pisa country: Italy lat: 43.70853 lon: 10.4036 facility: Ospedale Pediatrico Bambin Gesù IRCCS status: ACTIVE_NOT_RECRUITING city: Roma country: Italy lat: 41.89193 lon: 12.51133 hasResults: False