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/or 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.
patients with confirmed or suspected Inborn Errors of Immunity;
age < 50 years at onset of clinical features suspected for Inborn Errors of Immunity;
obtaining informed consent from patients or parents/legal guardian of pediatric patients.
None
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 \< 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.
Cohort
Other
Not listed
Category of diagnsoed Inborn Error of Immunity
categories I to X
Qualitative or quantitative alterations in innate immunity and/or adaptive immunity
presence or absence of alterations
Infective susceptibility
presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and/or vaccine strain infections
Immunodisregulation
presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and/or malignant neoplasms
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