Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome

Revista médica de Chile
Marlene AglonyE Talesnik

Abstract

DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus. To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency. 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. 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 ...Continue Reading

Citations

Nov 12, 2005·Current Opinion in Pediatrics·Robert J ShprintzenWendy Kates

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22q11 Deletion Syndrome

22q11.2 deletion syndrome, also known as DiGeorge syndrome, is a congenital disorder caused by a partial deletion of chromosome 22. Symptoms include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood, and delayed development. Discover the latest research on this disease here.

Aortic Coarctation

Aortic coarctation is a congenital condition characterized by narrowing of the aorta. Discover the latest research on this disease here.

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