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Inborn errors of immunity: a structured model for paediatric-to-adult transition of care
Adele Civino1, Federico Diomeda1, Concetta D'Orio2
1Pediatric Rheumatology and Immunology Unit, 'Vito Fazzi' Hospital, Lecce, Italy.
Insights
Transitioning patients with inborn errors of immunity (IEI) to adult care requires a structured protocol. This multidisciplinary approach ensures continuity of care, adherence, and better long-term outcomes for these complex patients.
Area of Science:
- Immunology
- Healthcare Management
- Paediatric Medicine
Background:
- Inborn errors of immunity (IEI) patients face critical care gaps during transition from pediatric to adult services.
- Lack of standardized guidelines leads to adverse outcomes like non-adherence and increased healthcare utilization.
- Growing IEI adult population necessitates improved transition strategies.
Purpose of the Study:
- To propose a structured, multidisciplinary transition protocol for IEI patients.
- To enhance therapeutic adherence, continuity of care, and patient well-being during transition.
- To provide a framework for managing IEI patients into adulthood.
Main Methods:
- Practice-informed narrative review integrating literature, expert consensus, and clinical experience.
- Early patient identification (age 14) and a minimum 3-year overlap with multidisciplinary team involvement.
- Standardized documentation (clinical dossier, transition report) and outcome indicators (infection rates, quality of life).
Main Results:
- A proposed model emphasizes early identification, multidisciplinary team collaboration, and clear documentation.
- Addresses immunoglobulin replacement therapy options and patient empowerment.
- Highlights adaptability to various healthcare settings, despite resource needs.
Conclusions:
- A structured, multidisciplinary protocol is crucial for successful IEI patient transition to adult care.
- Standardized strategies can bridge care gaps, reduce discontinuity, and improve long-term management.
- Further research is needed to prospectively validate the protocol's impact on clinical outcomes.
Abstract:
The transition of care from paediatric to adult healthcare services is a vulnerable period for patients with inborn errors of immunity (IEI), a heterogeneous group of primary immunodeficiency disorders characterized by chronic immune dysfunction and significant morbidity. With advances in diagnosis and treatment, an increasing number of patients with IEI are now reaching adulthood, making the management of this transition a growing clinical priority. Inadequate transition is associated with medical complications, treatment non-adherence, discontinuity of care, increased healthcare utilization, and poorer long-term outcomes. Despite growing awareness, condition-specific and standardized transition guidelines for IEI remain largely absent, leaving clinicians without a clear framework to guide this critical phase. In this context, the present review proposes a structured, multidisciplinary transition protocol designed specifically for paediatric patients with IEI to support therapeutic adherence, continuity of care, and patient well-being. This practice-informed narrative review integrates a non-systematic appraisal of the available literature, expert clinical consensus, and the practical experience of a dedicated Italian centre. Central to this model are the early identification of patients eligible for transition, beginning around age 14, and the gradual involvement of a multidisciplinary team, with shared responsibility between paediatric and adult specialists throughout an overlap period of at least three years. Clear documentation, including a standardized clinical dossier and final transition report, along with measurable process and outcome indicators such as infection rates, follow-up adherence, and patient-reported quality of life, ensures continuity of care and ongoing support. The framework also addresses immunoglobulin replacement therapy options, including intravenous, subcutaneous, and facilitated subcutaneous immunoglobulin, which each offer distinct advantages depending on patient needs and life stage. Patient and caregiver empowerment, timely management of comorbidities, and regular reassessment of individual needs are core components. Although resource-intensive, the proposed model is designed to be adaptable to different healthcare settings. Limitations, including reliance on multidisciplinary resources and the absence of prospective validation, are acknowledged, and future research to evaluate its impact on clinical outcomes is warranted. Through coordinated, standardized strategies, this work aims to bridge the gap between paediatric and adult healthcare, reducing care discontinuity and supporting successful long-term disease management in adulthood.
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