Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
| Autor: | 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 |
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| Jazyk: | Spanish; Castilian |
| Rok vydání: | 2004 |
| Předmět: | |
| Zdroj: | Revista médica de Chile v.132 n.1 2004 SciELO Chile CONICYT Chile instacron:CONICYT |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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