D2.373 - Characterizing the clinical allergic profile of Romanian adult patients with inborn errors of immunity: results from a tertiary center

The link between inborn errors of immunity (IEI) and atopy is well-documented in primary atopic disorders (PAD). However, there is a paucity of data regarding allergic manifestations in other IEI. We aimed to characterize the clinical allergic profile patterns in a cohort of Romanian adult patients with IEI. 

Adult patients diagnosed with IEI were included in this study over a three-month period. Clinical data was collected via an adapted ENDA questionnaire and detailed patient history. Blood samples were obtained in order to assess total IgE values and eosinophil counts. 

A total of 22 patients (59% females), with a mean age of 41.9 ± 15.8 years old, diagnosed with IEI were included. The most common IEI in our cohort was common variable immunodeficiency (72.7%), followed by selective IgA deficiency (13.6%). 77.2% of patients received immunoglobulin replacement therapy and 4.5% received high-dose immunoglobulins for immunomodulatory purposes. 13 patients (59%) reported clinical manifestations compatible with allergic diseases, most commonly rhinitis (46.1%), drug hypersensitivity reactions (38.4%) and asthma (30.7%). Drug hypersensitivity reactions (DHRs) were mostly immediate (66.6%), non-severe (83.3%), with only one anaphylactic episode. The most reported triggers for DHRs were beta-lactams (33.3%), NSAIDs (33.3%) and sulfonamide antibiotics (33.3%). Regarding laboratory findings, 4.5% presented eosinophilia in peripheral blood and 4.5% presented high total IgE values. Confirmatory allergy work-up is currently ongoing. 

Our preliminary data reveal a high prevalence of self-reported allergic manifestations in our cohort compared to the general population, likely representing an overestimation, which requires confirmation through allergy testing. Although almost half the patients reported symptoms suggestive of rhinitis and/or asthma, biomarkers (eosinophilia, total IgE) were rarely elevated. This could suggest a predominance of non-T2 inflammatory response, although we have to acknowledge the lack of sensitivity of these systemic biomarkers that is often seen in patients with confirmed allergy, regardless of the presence of IEI. Furthermore, CVID-related antibody deficiency (72.7% of the cohort) and potentially a lack of Th2 skewing could contribute to these findings. These hypotheses will have to be further investigated through allergy work-ups, on a larger patient sample.