Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders

Condition(s) studied

Study summary

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.

Eligibility

Primary outcome measure(s)

• Category of diagnsoed Inborn Error of Immunity — at baseline
  categories I to X
• Qualitative or quantitative alterations in innate immunity and/or adaptive immunity — at baseline
  presence or absence of alterations
• Infective susceptibility — at baseline and every 6 months up to 1 year
  presence of one of the following conditions: invasive, severe, persistent, recurrent, opportunistic and/or vaccine strain infections
• Immunodisregulation — at baseline and every 6 months up to 1 year
  presence of at least one disorder among atopy, hyperinflammation, autoimmunity, non-clonal lymphoproliferation and/or malignant neoplasms
• Mortality — 1 year after diagnosis of Inborn Errors of Immunity
  time-to-event from diagnosis of Inborn Errors of Immunity up to 1 year

Trial sites (1)

More IRCCS Azienda Ospedaliero-Universitaria di Bologna trials in Italy