Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge

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 immuno-logic 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 patients (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 (Rev Méd Chile 2004; 132: 26-32)

Bibliographic Details

Main Authors:	Aglony I,Marlene, Lizama C,Macarena, Méndez R,Cecilia, Navarrete S,Carmen, Garay G,Francisco, Repetto L,Gabriela, Pérez L,Rebeca, Carrión A,Flavio, Talesnik G,Eduardo
Format:	Digital revista
Language:	Spanish / Castilian
Published:	Sociedad Médica de Santiago 2004
Online Access:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100004
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