Immunological and Genetic Aspects of Hereditary Antibody Deficiencies

The study focused on analyzing data from pediatric and adult patients diagnosed with Antibody Deficiencies (AD) at a PID center between 2010-2019. A total of 46 patients were identified with AD, including 3 adults and 6 children aged 2-8 years with sIgA deficiency, and 2 children aged 1-2 years with Hyper IgM syndrome. The largest group consisted of patients with common variable immune deficiency and agammaglobulinemia. Patients experienced frequent severe infections and received IVIG replacement therapy. Genetic tests revealed mutations in 5 patients: 2 with Btk deficiency, 2 with CD40 LG deficiency, and 1 with a BLNK gene mutation. The study concluded that children with repeated severe bacterial infections and hypoglobulinemia should be suspected of having PID, particularly AD, and recommended immune examinations including serum immunoglobulin levels and B and T-cell subsets as initial detection steps.