Bridging Knowledge Gaps in Anaphylaxis Management Through a Video-Based Educational Tool.

Introduction: We aimed to develop and test the effectiveness of an education tool to help pediatric patients and their families better understand anaphylaxis and its management, and to improve current knowledge and treatment guidelines adherence. Methods: From June 2019 to May 2022, 128 pediatric patients with history of food-triggered anaphylaxis who presented to the allergy outpatient clinics at the study institution were recruited. Consenting families were asked to complete 6 questions related to the triggers, recognition, and management of anaphylaxis at the time of presentation to the clinic. Participants were shown a 5-min animated video on the causes, presentation, and management of anaphylaxis. At the end of the video, the participants were redirected to the same 6 questions to respond again. The scores were recorded in proportion of correct answers (minimum 0.0; maximum 1.0). Results: The mean age of the patients was 5.8 ± 4.5 years (range: 0.5-18.8 years). The majority were males (70 patients; 54.7%). The mean baseline prevideo education questionnaire score was 0.76 ± 0.2 (range: 0.3-1.0), whereas the mean follow-up score was 0.82 ± 0.2 (range: 0.3-1.0). This score difference of 0.06 was statistically significant (P < 0.001). There were no significant associations between change in scores and age or gender of the participants. Conclusion: Our video teaching method was successful in educating patients and their families to better understand anaphylaxis and its management at the moment of the clinical encounter. Retention of knowledge at long-term follow-up should be assessed.

Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes.

Syndromic primary immunodeficiencies are rare genetic disorders that affect both the immune system and other organ systems. More often, the immune defect is not the major clinical problem and is sometimes only recognized after a diagnosis has been made based on extra-immunological abnormalities. Here, we report two sibling pairs with syndromic primary immunodeficiencies that exceptionally presented with a phenotype resembling early-onset common variable immunodeficiency, while extra-immunological characteristics were not apparent at that time. Additional features not typically associated with common variable immunodeficiency were diagnosed only later, including skeletal and organ anomalies and mild facial dysmorphism. Whole exome sequencing revealed KMT2A-associated Wiedemann-Steiner syndrome in one sibling pair and their mother. In the other sibling pair, targeted testing of the known disease gene for Roifman syndrome (RNU4ATAC) provided a definite diagnosis. With this study, we underline the importance of an early-stage and thorough genetic assessment in paediatric patients with a common variable immunodeficiency phenotype, to establish a conclusive diagnosis and guide patient management. In addition, this study extends the mutational and immunophenotypical spectrum of Wiedemann-Steiner and Roifman syndromes and highlights potential directions for future pathophysiological research.