D2.374 - Diagnostic delay in children with primary immunodeficiencies: clinical consequences in a single-country cohort from the Republic of Moldova

Delayed diagnosis of primary immunodeficiencies (PIDs) remains a major challenge, particularly in resource-limited settings, and is associated with increased infectious morbidity and long-term organ damage.

Aim. To assess the extent of diagnostic delay and its clinical consequences in children with PIDs from a single-country cohort.

We conducted a retrospective analysis of 26 pediatric patients diagnosed with PIDs and followed at a tertiary referral center in the Republic of Moldova. Data collected included age at diagnosis, PID category, genetic confirmation, infectious burden, hospitalizations, and organ complications. Diagnostic delay was estimated using age at diagnosis as a proxy, given early-onset symptomatology in most patients. Statistical analyses included non-parametric testing and odds ratio (OR) estimation.

The median age at diagnosis was 2.0 years, with a mean age of 4.47±5.15 years (95% CI: 2.25–6.70), indicating a substantial diagnostic delay. Combined immunodeficiencies accounted for 61.5% of cases and were diagnosed significantly later than predominantly antibody deficiencies (Mann–Whitney U test, p=0.007). Recurrent lower respiratory tract infections were frequent, including pneumonia, bronchitis, and pleural complications, leading to repeated hospitalizations. Delayed diagnosis (age at diagnosis >2 years) was strongly associated with structural lung disease detected by chest tomography (OR 6.5, 95% CI:1.09–38.63). Patients diagnosed later exhibited a higher burden of severe infections and irreversible pulmonary damage, including atelectasis and pulmonary fibrosis.

Diagnostic delay in pediatric PIDs remains considerable and is associated with severe infectious morbidity and irreversible organ damage. These findings highlight the critical importance of earlier recognition, increased clinical awareness.