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 Santi...

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Autores principales:	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
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2004
Materias:	Chromosome abnormalities Chromosomes human pair 22 DiGeorge syndrome
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100004
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spelling	oai:scielo:S0034-988720040001000042014-08-14Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorgeAglony I,MarleneLizama C,MacarenaMéndez R,CeciliaNavarrete S,CarmenGaray G,FranciscoRepetto L,GabrielaPérez L,RebecaCarrión A,FlavioTalesnik G,Eduardo Chromosome abnormalities Chromosomes human pair 22 DiGeorge syndrome 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)info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.132 n.1 20042004-01-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100004es10.4067/S0034-98872004000100004
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Chromosome abnormalities Chromosomes human pair 22 DiGeorge syndrome
spellingShingle	Chromosome abnormalities Chromosomes human pair 22 DiGeorge syndrome 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 Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
description	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)
author	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
author_facet	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
author_sort	Aglony I,Marlene
title	Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
title_short	Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
title_full	Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
title_fullStr	Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
title_full_unstemmed	Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge
title_sort	manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de digeorge
publisher	Sociedad Médica de Santiago
publishDate	2004
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872004000100004
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Manifestaciones clínicas y variabilidad inmunológica en nueve pacientes con síndrome de DiGeorge

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