Abstract
This study aims to investigate the immunologic deficiencies in individuals with Down Syndrome (DS) who were evaluated by immunologists to evaluate extent of immune dysfunction in DS patients. A retrospective review was conducted, approved by the University of Miami and Jackson Health Systems institutional review boards (study #20230956). Electronic medical records from 2010 to 2023 were searched, identifying 35 patients for review. After excluding duplicates and patients without DS diagnosis, 17 patient records were reviewed. Data collected included demographic information, history of infections, and immunologic laboratory parameters. The cohort comprised 17 patients, with a mean age of 7.4 years at immunologic evaluation. The most common recurrent infections were otitis media (29%), viral upper respiratory infections (24%), and bacterial lower respiratory infections (24%). 15/17 (88%) of these patients had a documented laboratory immunological abnormality. Immunologic findings showed that 9/17 (53%) had absolute lymphopenia, 6/10 (60%) had T-cell, B-cell and/or Natural Killer lymphopenia, 7/14 (50%) had low IgG, low IgA, and/or low IgM. Pneumococcal titers were non-protective in 9/12 (75%) of patients after primary vaccination, with 50% achieving protective titers after booster vaccination. Recommendations included additional Pneumococcal vaccination 8/12 (67%) and immunoglobulin replacement therapy 1/17 (6%). This study highlights significant immune dysfunction in DS patients, underscoring the need for routine immunologic evaluations. The findings advocate for enhanced clinical guidelines to include immunologic assessments and treatments, aiming to improve health outcomes for individuals with DS.