title: [Clinical findings and immunologic variability in 9 patients with DiGeorge syndrome].
abstract: BACKGROUND
  DiGeorge syndrome is characterized by developmental defects of the heart, parathyroid glands and thymus.
  
  
  OBJECTIVE
  To describe the clinical variability of DiGeorge syndrome and its relation with immunodeficiency.
  
  
  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.
authors.affiliation: Departamento de Pediatría, Escuela de Medicina, Pontificia Universidad Católica de Chile, Santiago.
authors.forename: Marlene
authors.initials: M
authors.lastname: Aglony
authors.forename: Macarena
authors.initials: M
authors.lastname: Lizama
authors.forename: Cecilia
authors.initials: C
authors.lastname: Méndez
authors.forename: Carmen
authors.initials: C
authors.lastname: Navarrete
authors.forename: Francisco
authors.initials: F
authors.lastname: Garay
authors.forename: Gabriela
authors.initials: G
authors.lastname: Repetto
authors.forename: Rebeca
authors.initials: R
authors.lastname: Pérez
authors.forename: Flavio
authors.initials: F
authors.lastname: Carrión
authors.forename: Eduardo
authors.initials: E
authors.lastname: Talesnik
mesh_terms: D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000235:genetics* / Q000276:immunology*; D005260:Female; D014644:Genetic Variation; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D012189:Retrospective Studies; D013601:T-Lymphocytes
vernacular_title: Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge.