Background: DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus.
Aim: To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency.
Patients and methods: A three years retrospective chart review from three hospitals of Santiago, Chile was conducted. We included patients with neonatal diagnosis of DiGeorge syndrome. Clinical and immunologic data were collected from their initial evaluation.
Results: We found 9 patients with DiGeorge syndrome. All had dysmorphic facies, hypocalcemia and congenital heart disease. Three patients had hypoparathyroidism, 4 had interrupted aortic arch type B, 4 had tetralogy of Fallot and 1 had coarctation of aorta. Six patients had other malformations and associated diseases. FISH studies, performed in 8 patients, found the 22q11.2 microdeletion in all. Most patients had low CD3, CD4 and CD8 T cell counts, that ranged for CD3 T cells, between 256/mm3 and 3,664/mm3, for CD4 T cells, between 224/mm3 and 2,649/mm3, for CD8 T cells, between 26/mm3 and 942/mm3. Three patients had CD4 T cells counts <400/mm3 and one had a phytohemagglutinin stimulation index <10. Airway malformations and primary hypoparathyroidism were present in 3 out of 4 patients that died before 18 months compared with the surviving patents (p=0.048).
Conclusions: We found variable clinical manifestations as well as CD3, CD4 and CD8 T cell counts in patients with DiGeorge syndrome. Airway malformations were associated with a higher mortality.