protocolSection identificationModule nctId: NCT06332196, orgStudyIdInfo id: L-IEI, briefTitle: Immunodeficiency and Cancer: Identification of Congenital Immune System Defects Underlying Paediatric Lymphomas, statusModule overallStatus: RECRUITING, startDateStruct date: 2023-10-18, primaryCompletionDateStruct date: 2025-06-18, completionDateStruct date: 2025-10-18, studyFirstPostDateStruct date: 2024-03-27, lastUpdatePostDateStruct date: 2024-03-27, sponsorCollaboratorsModule leadSponsor name: Meyer Children's Hospital IRCCS, class: OTHER, descriptionModule 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., conditionsModule conditions: Immune Deficiency, designModule studyType: INTERVENTIONAL, phases: NA, designInfo 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, maskingInfo masking: NONE, enrollmentInfo count: 50, type: ESTIMATED, armsInterventionsModule interventions name: Analysis of biological sample and clinical data, outcomesModule primaryOutcomes measure: To unravel inborn error of immunity behind Lymphoid neoplasm in children, secondaryOutcomes measure: Identification of lymphoma-specific biomarkers, eligibilityModule sex: ALL, minimumAge: 1 Day, maximumAge: 24 Years, stdAges: CHILD, stdAges: ADULT, contactsLocationsModule locations facility: AOU Malpighi IRCCS, status: ACTIVE_NOT_RECRUITING, city: Bologna, country: Italy, geoPoint lat: 44.49381, lon: 11.33875, locations facility: Meyer Children's Hospital IRCCS, status: RECRUITING, city: Florence, country: Italy, contacts name: Eleonora Gambineri, role: CONTACT, email: eleonora.gambineri@meyer.it, geoPoint lat: 43.77925, lon: 11.24626, locations facility: AOU Pisana, status: ACTIVE_NOT_RECRUITING, city: Pisa, country: Italy, geoPoint lat: 43.70853, lon: 10.4036, locations facility: Ospedale Pediatrico Bambin Gesù IRCCS, status: ACTIVE_NOT_RECRUITING, city: Roma, country: Italy, geoPoint lat: 41.89193, lon: 12.51133, hasResults: False