Do microdeletions lead to immune deficiency?

Microdeletion syndromes may be accompanied by immunological disorders. This study aimed to evaluate the clinical and laboratory data as well as the immune functions of patients diagnosed with a microdeletion syndrome.

39 patients diagnosed with microdeletion syndrome who were monitored at the Pediatric Genetics and Immunology clinics at Dr. Behcet Uz Children's Hospital were included in this study. All data for this research were obtained from patient records and by individual consultation with their parents.

Of the 39 patients, 15 were monitored for a diagnosis of Williams syndrome, 12 for DiGeorge syndrome, 4 for Prader-Willi syndrome, 2 for Wolf-Hirschhorn syndrome, 1 for a 1p36 deletion, 1 for Smith-Magenis syndrome, 2 for Trichorhinophalangeal syndrome type 2 (TRPS2), and 2 for Cri-du-chat syndrome. Of these 39 patients, 10 (25.6%) had a medical history of frequent upper respiratory tract infections. One of the cases with TRPS2 and another with Smith-Magenis syndrome had previously received intravenous antibiotic therapy for infectious disease. Five of the 12 patients with DiGeorge syndrome had low T lymphocytes. Two of the patients with DiGeorge syndrome with a history of frequent infections, with hypogammaglobinemia, and low lymphocytes were receiving regular intravenous immunoglobulin (IVIG) replacement.

It must be taken into account that patients with microdeletion syndromes, especially those with DiGeorge syndrome, may also have immunodeficiencies; therefore, these patients should be closely monitored to prevent development of any complications.