TürkiyeResearch and clinical trials
72 DiGeorge patients in Ankara: immune findings and signs of a severe course studied
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
At Hacettepe, 72 patients with 22q11.2 deletion (DiGeorge) syndrome were followed. The median age at diagnosis was 1.7 years. The most common findings were differences in facial features, nervous system findings and congenital heart defects. Lymphocyte counts were low in 42% of patients. Six patients with low lymphocytes died. Low calcium, heart defects and low T cells were seen as signs of a severe course.
What does it mean for patients and families?
In this disease, immune status varies greatly from person to person. Regular monitoring with blood counts and immune tests is important. Talk to your doctor about vaccines and infection precautions.
Source
Scientific paper: Clinical and Immunological Features of a Large DiGeorge Syndrome Cohort. Journal of Clinical Immunology, 2025. DOI: 10.1007/s10875-025-01884-0 · PubMed 40461840
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: 22q11.2 deletion syndrome (DiGeorge syndrome)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.