Management strategies for patients with DiGeorge syndrome (22q11.2 deletion syndrome) focus on multidisciplinary care, with particular attention to immunological support due to thymic hypoplasia or aplasia leading to T-cell immunodeficiency.
Immunological management includes regular immunological assessment to monitor T-cell counts and function, as well as immunoglobulin levels, to identify the degree of immune deficiency and guide treatment decisions NICE NG239. In cases of significant T-cell deficiency, immunoglobulin replacement therapy may be necessary to prevent infections, alongside prophylactic antibiotics in some patients to reduce infection risk McDonald-McGinn et al. 2015.
Thymic transplantation is a specialized treatment option for patients with complete DiGeorge syndrome and profound T-cell immunodeficiency, although this is rare and typically managed in specialist centres McDonald-McGinn et al. 2015. Live vaccines are generally avoided in patients with severe T-cell deficiency, and vaccination schedules should be tailored based on immune status NICE NG239.
Beyond immunological support, management includes cardiac evaluation and intervention for congenital heart defects, calcium monitoring and supplementation for hypoparathyroidism, and developmental support, reflecting the syndrome’s multisystem involvement NICE NG239 McDonald-McGinn et al. 2015.
In summary, the core immunological management of DiGeorge syndrome involves ongoing immune monitoring, immunoglobulin replacement when indicated, infection prophylaxis, and avoidance of live vaccines in severe cases, integrated within a broader multidisciplinary care framework.
Key References
- NG239 - Vitamin B12 deficiency in over 16s: diagnosis and management
- NG78 - Cystic fibrosis: diagnosis and management
- NG20 - Coeliac disease: recognition, assessment and management
- NG72 - Developmental follow-up of children and young people born preterm
- (McDonald-McGinn et al., 2015): 22q11.2 deletion syndrome.