DiGeorge Syndrome Management

Introduction to DiGeorge Syndrome

DiGeorge syndrome is most commonly caused by a 22q11.2 deletion, presenting with variable features including thymic hypoplasia/aplasia, hypoparathyroidism, congenital heart defects, and facial dysmorphism 1, 2

Severity classification is essential for management, with complete athymia characterized by CD3+ T lymphocytes <50 cells/μL, partial thymic hypoplasia by CD3+ T lymphocytes <1500 cells/μL, and immune dysregulation by CD3+ T lymphocytes >50 cells/μL with naive T cells <5% of total CD3+ T cells 2, 3

The American Academy of Allergy, Asthma, and Immunology recommends periodic immunologic re-evaluation as T-cell numbers and function tend to increase over time 4, 5
For patients with recurrent sinopulmonary infections, antibiotic prophylaxis and/or IgG replacement therapy should be considered, and live vaccines should not be administered without evidence of normal T-cell responses to mitogens and antigens 4, 5
T-cell reconstitution is required for complete DGS with severe T-cell deficiency, typically through thymus transplantation 6, 4

Monitor and treat hypocalcemia due to hypoparathyroidism, which is a common feature, and regular monitoring of calcium levels is essential, especially during periods of stress, illness, or surgery 6, 8

Early intervention services should be implemented for developmental concerns, and monitor for neuropsychiatric disorders which may emerge later in life 8, 9, 10

Implement infection prevention strategies, particularly for patients with significant T-cell deficiency, and be vigilant for opportunistic infections such as Pneumocystis jirovecii pneumonia, CMV pneumonitis, and persistent candidiasis 1, 2

Monitor for immune dysregulation which may manifest as Omenn syndrome-like features, and assess for autoimmunity, particularly hematologic cytopenias 2, 3
Evaluate for IgA deficiency and hypogammaglobulinemia, which occur in a subset of patients 4, 5

Provide genetic counseling as 90-95% of cases are de novo and 5-10% are inherited, and discuss 50% recurrence risk for affected individuals having children 1, 2, 8, 9

Coordinate care among immunology, cardiology, endocrinology, developmental pediatrics, and other specialties as needed, and regular screening for associated comorbidities should continue throughout the lifespan 8, 9, 10