Immunologic profiles and infection patterns in patients with down syndrome: A retrospective review

Abstract

Individuals with Down syndrome (DS) are known to have increased susceptibility to infections, yet the extent of underlying immune dysfunction remains under-characterized. This retrospective study evaluates immune abnormalities in individuals with DS referred for immunologic assessment. A review of electronic records (2010–2023) identified 17 unique patients (mean age 7.4 years). Recurrent infections included otitis media (29 %), viral URIs (24 %), and bacterial LRIs (24 %), though infection types were often poorly documented. Lab abnormalities were frequent: 15/17 (88 %) had ≥1; 9/17 (53 %) had absolute lymphopenia, and among those tested, 6/10 (60 %) had T-, B-, and/or NK-cell lymphopenia. Low immunoglobulins were seen in 7/14 (50 %). Pneumococcal titers were non‑protective in 9/12 (75 %) after the primary series, with only 50 % protective post‑booster. Interventions included additional pneumococcal vaccines (8/12, 67 %) and immunoglobulin therapy (1/17, 6 %). Findings underscore the high rate of immune abnormalities in individuals with DS and support routine immunologic evaluation and tailored interventions. Though referral bias may overestimate prevalence, results highlight the need for proactive immune monitoring in this population.