To evaluate various clinical aspects, specifically regarding immune status, in a large cohort of patients with DGS.
Data were collected of 98 patients with DGS treated at a tertiary medical center. This included general information, laboratory results, and clinical features.
The median age at diagnosis was 2.0 (range: 0.0-36.5) years. The most common symptoms that led to diagnosis were congenital heart defect, speech delay, palate anomalies, and developmental delay. Common clinical features included recurrent infections (76 patients), congenital heart diseases (61 patients), and otorhinolaryngology disorders (61 patients). Twenty patients had anemia; the incidence was relatively high among patients aged 6 to 59 months. Thrombocytopenia was present in 20 patients. Recurrent chest infections were significantly higher among patients with T-cell and T-cell subset deficiencies. Decreased T-cell receptor excision circles (TREC) were more common with increasing age, P < .001. Of the 27 patients hospitalized due to infection, pneumonia was a leading cause in 13.
Awareness of the syndrome’s typical and uncommon characteristics is important to improve diagnosis, treatment, surveillance, and follow up.

Copyright © 2021. Published by Elsevier Inc.