[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100575535":3},{"organization":4,"outcomesModule":7,"designInfo":28,"detailedDescription":30,"studyPopulation":31,"armGroups":27,"interventions":27,"overallOfficials":32,"centralContacts":36,"locations":42,"responsibleParty":59,"collaborators":27,"id":61,"slug":27,"hasResults":62,"nctId":63,"briefTitle":64,"officialTitle":64,"acronym":27,"eligibilityCriteria":65,"healthyVolunteers":62,"sex":66,"minAge":27,"maxAge":67,"enrollmentInfo":68,"targetDuration":27,"studyType":71,"phases":27,"briefSummary":72,"conditions":73,"keywords":75,"overallStatus":44,"whyStopped":27,"lastUpdateSubmitDate":77,"lastUpdatePostDateStruct":78,"startDateStruct":81,"completionDateStruct":83,"leadSponsor":85,"locationsCount":86},{"fullName":5,"class":6},"IRCCS Azienda Ospedaliero-Universitaria di Bologna","OTHER",{"primaryOutcomes":8,"secondaryOutcomes":27,"otherOutcomes":27},[9,13,16,20,23],{"measure":10,"description":11,"timeFrame":12},"Category of diagnsoed Inborn Error of Immunity","categories I to X","at baseline",{"measure":14,"description":15,"timeFrame":12},"Qualitative or quantitative alterations in innate immunity and\u002For adaptive immunity","presence or absence of alterations",{"measure":17,"description":18,"timeFrame":19},"Infective susceptibility","presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and\u002For vaccine strain infections","at baseline and every 6 months up to 1 year",{"measure":21,"description":22,"timeFrame":19},"Immunodisregulation","presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and\u002For malignant neoplasms",{"measure":24,"description":25,"timeFrame":26},"Mortality","time-to-event from diagnosis of Inborn Errors of Immunity up to 1 year","1 year after diagnosis of Inborn Errors of Immunity",null,{"allocation":27,"interventionModel":27,"interventionModelDescription":27,"primaryPurpose":27,"observationalModel":29,"timePerspective":6,"maskingInfo":27},"COHORT","Due to the observational nature of the study, patients were and will be treated according to normal clinical practice and in accordance with medical judgement. The following evaluations were performed in the retrospective cohort and will be performed in the prospective cohort:\n\n* Standard haematochemical examinations;\n* Extended lymphocyte typing;\n* Plasma dosage of immunoglobulins;\n* Evaluation of early and late responses to Measles-Parotitis-Rosolia and Diphtheria-Tetanus-Pertussis vaccinations;\n* Evaluation of antibody responses to vaccines against Haemophilus Influenzae, Neisseria Meningitidis and Pneumococcus;\n* Detection of auto-antibodies on HEp-2 cells, and of auto-antibodies directed against haemopoietic cells and proteins of innate and adaptive immunity;\n* Plasma dosage of complement factors (C3, C4);\n* Radiological assessment;\n* Functional immunological assay;\n* Molecular-genetic investigations of targeted gene panels involved in immunodysregulation and Inborn Errors of Immunity.","Patients with confirmed or suspected Inborn Errors of Immunity, in particular patients with an immunodysregulated condition (autoimmunity, allergy, hyperinflammation and non-clonal lymphoproliferation, susceptibility to the development of malignant neoplasms) aged \\\u003C 50 years at onset of clinical features suspected for Inborn Errors of Immunity, who referred to the Pediatrics Unit of the IRCCS Azienda Ospedaliero-Universitaria di Bologna Policlinico di Sant'Orsola, Italy.",[33],{"name":34,"affiliation":5,"role":35},"Francesca Conti, MD","PRINCIPAL_INVESTIGATOR",[37],{"name":38,"role":39,"phone":40,"phoneExt":27,"email":41},"Francesca Conti","CONTACT","00390512144666","francesca.conti27@unibo.it",[43],{"facility":5,"status":44,"city":45,"state":46,"zip":47,"country":48,"countryCode":49,"cosmosGeoPoint":50,"geoPoint":55,"contacts":56},"RECRUITING","Bologna","Bolgona","40138","Italy","IT",{"type":51,"coordinates":52},"Point",[53,54],11.33875,44.49381,{"lat":54,"lon":53},[57,58],{"name":38,"role":39,"phone":40,"phoneExt":27,"email":41},{"name":38,"role":39,"phone":27,"phoneExt":27,"email":27},{"type":60,"investigatorFullName":27,"investigatorTitle":27,"investigatorAffiliation":27,"oldNameTitle":27,"oldOrganization":27},"SPONSOR","100575535",false,"NCT06773546","Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders","Inclusion Criteria:\n\n* patients with confirmed or suspected Inborn Errors of Immunity;\n* age \\\u003C 50 years at onset of clinical features suspected for Inborn Errors of Immunity;\n* obtaining informed consent from patients or parents\u002Flegal guardian of pediatric patients.\n\nExclusion Criteria:\n\n• patients in whom infectious susceptibility and immunodysregulation can only be attributed to known non-immunological causes: acquired immunodeficiency secondary to chronic infections (HIV), and acquired immunodeficiency secondary to immunosuppressive treatment.","ALL","50 Years",{"count":69,"type":70},400,"ESTIMATED","OBSERVATIONAL","This is an observational, retro-prospective, moncentric study focused on Inborn Errors of Immunity, an heterogeneous group of inherited diseases due to defects in the differentiation and\u002For function of the immune system. The primary aim of this study is to obtain a clinical-immunological, functional and molecular characterisation of paediatric and adult patients with confirmed or suspected Inborn Errors of Immunity, particularly of patients with manifestations of immunedysregulation, focusing on clinical course, immunophenotypic laboratory and functional abnormalities, genetic background.",[74],"Inborn Errors of Immunity",[76],"Inborn errors of immunity","2025-01-13",{"date":79,"type":80},"2025-01-14","ACTUAL",{"date":82,"type":80},"2023-09-15",{"date":84,"type":70},"2026-12-31",{"name":5,"class":6},1]