Immunodysregulation As an Expression of Underlying Inborn Errors of Immunity: Implementation of Diagnostics and Management of Pediatric and Adult Patients with Immune System Disorders
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Inborn Errors of Immunity. Basic parameters: up to 50 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
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.
Detailed description
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:
* Standard haematochemical examinations; * Extended lymphocyte typing; * Plasma dosage of immunoglobulins; * Evaluation of early and late responses to Measles-Parotitis-Rosolia and Diphtheria-Tetanus-Pertussis vaccinations; * Evaluation of antibody responses to vaccines against Haemophilus Influenzae, Neisseria Meningitidis and Pneumococcus; * Detection of auto-antibodies on HEp-2 cells, and of auto-antibodies directed against haemopoietic cells and proteins of innate and adaptive immunity; * Plasma dosage of complement factors (C3, C4); * Radiological assessment; * Functional immunological assay; * Molecular-genetic investigations of targeted gene panels involved in immunodysregulation and Inborn Errors of Immunity.
Primary outcome measures
- Category of diagnsoed Inborn Error of Immunity [Time frame: at baseline]
- Qualitative or quantitative alterations in innate immunity and/or adaptive immunity [Time frame: at baseline]
- Infective susceptibility [Time frame: at baseline and every 6 months up to 1 year]
- Immunodisregulation [Time frame: at baseline and every 6 months up to 1 year]
- Mortality [Time frame: 1 year after diagnosis of Inborn Errors of Immunity]
Eligibility criteria
Inclusion criteria
- 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.
Exclusion criteria
- 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.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: No
Study design
- Observational model
- Cohort
Study locations
Italy · 1 center
- IRCCS Azienda Ospedaliero-Universitaria di Bologna — Bologna
Identifiers
NCT: NCT06773546 · ID-TYPE