Italian pediatric experts' consensus statement on diagnosis and management of primary atopic disorders

Primary Atopic Disorders (PAD) represent a recently recognized subset of inborn errors of immunity (IEI), characterized by severe atopy driven by genetic mutations leading to dysregulated type 2 immune responses, excessive mast cell activation, and hyper production of IgE. In PAD patients, severe atopic manifestations, including eczema, asthma, food allergies, and eosinophilic gastrointestinal disorders, are often associated with other signs of immune dysfunction.

Recognizing the need for standardized diagnostic and management guidelines for PAD, a Delphi-based expert consensus was developed within the Immunology Committee of the Italian Society of Pediatric Allergy and Immunology (SIAIP). After a systematic review of the literature and the development of the clinical statements, 45 specialists from multiple pediatric subspecialties reached an agreement on key aspects of PAD classification, diagnosis, and treatment.

The consensus focuses on some red flags that could aid clinicians in suspecting PAD. The document also proposes a diagnostic work-up to differentiate monogenic PAD from polygenic allergic conditions. It also emphasizes the importance of molecular pathway analysis to direct precision treatments, including biological drugs. Given the complexity of the field and the potential overlap between PAD and other IEI, the consensus recommends a multidisciplinary approach to diagnosis and treatment. The document establishes a framework for early recognition of PAD, integrating emerging genetic insights into clinical practice and promoting personalized therapeutic strategies.

The present work is the first structured consensus to standardize PAD diagnosis and management among pediatric subspecialists, aiming to improve patient outcomes through early intervention and tailored therapies.