Figure 2.
The diagram is divided into six sections, each with a specific focus. Section 1, labeled “Targeted Approach,” emphasizes prioritizing symptomatic patients and family history. Section 2, “Diagnosis is Integrative,” highlights the importance of integrating clinical phenotype, immune profile, functional studies, and family segregation. Section 3, “Validation is Critical,” warns about the need for functional studies to confirm pathogenicity of genetic variants. Section 4, “Continuous Re-Evaluation,” stresses the importance of ongoing clinical and immunologic phenotyping. Section 5, “Selecting Technology,” advises considering various factors such as presentation, pathways, age, severity, urgency, resources, and preference. Section 6, “Multidisciplinary Team,” underscores the necessity of a multidisciplinary team to manage decisional conflict and anxiety, and to provide specialized counseling.
Key considerations in IEI genetic testing.