%0 Journal Article
%T S¨ªndrome de Edwards asociado a inmunodeficiencia combinada Edwards' syndrome associated to combined immunodeficiency
%A Vianed Mars¨¢n Su¨¢rez
%A Alina Garc¨ªa Garc¨ªa
%A Norma de Le¨®n Ojeda
%A Consuelo Mac¨ªas Abraham
%J Revista Cubana de Hematolog£¿-a, Inmunolog£¿-a y Hemoterapia
%D 2011
%I Editorial Ciencias M¨¦dicas
%X El s¨ªndrome de Edwards es originado por un desbalance cromos¨®mico representado por una trisom¨ªa 18. Alrededor de 95 % de los pacientes corresponden a trisom¨ªa completa, donde est¨¢n presentes m¨²ltiples malformaciones en ¨®rganos y sistemas. El 5 % restante pertenece a trisom¨ªa parcial o mosaicismo, con un fenotipo incompleto por la ausencia de algunas anomal¨ªas t¨ªpicas del s¨ªndrome. La inmunodeficiencia es una manifestaci¨®n poco frecuente del s¨ªndrome Edwards. Se presenta el caso de una paciente de 9 meses de edad con trisom¨ªa 18 parcial e infecciones severas recurrentes desde la etapa neonatal, asociadas a anemia, linfopenia, trombocitopenia y neutrofilia. La ecograf¨ªa mostr¨® una hipoplasia del timo. Se encontraron cifras disminuidas de linfocitos TCD4+, CD8+ y de c¨¦lulas asesinas naturales. La cuantificaci¨®n de linfocitos B fue normal. Se hallaron concentraciones normales de inmunoglobulinas s¨¦ricas IgM e IgG y disminuidas de IgA. Se encontr¨® una disminuci¨®n de la actividad hemol¨ªtica total de la v¨ªa cl¨¢sica del complemento. No se encontraron alteraciones en la funci¨®n opsonofagoc¨ªtica. Se diagnostic¨® una inmunodeficiencia combinada asociada, hecho que demostr¨® la heterogeneidad de la expresi¨®n cl¨ªnica del s¨ªndrome Edwards y la relaci¨®n entre el defecto cromos¨®mico y la formaci¨®n del sistema inmune en el per¨ªodo intrauterino. Edwards' syndrome is caused by a chromosomal imbalance represented by trisomy 18. Complete trisomy accounts for 95% of patients who present multiple malformations in organs and systems. The remaining 5% presents partial trisomy or mosaicism, with incomplete phenotype due to lack of some typical anomalies of this syndrome. Immunodeficiency is a rare manifestation of Edwards' syndrome. The case of a 9-months old female patient with partial trisomy 18 and recurrent severe infections since the neonatal phase, all associated to anemia, lymphopenia, thrombocytopenia and neutrophilia, was presented in this paper. The echographic test indicated tymus hypoplasia. There were reduced numbers of TCD4+, CD8+ lymphocytes and of natural killer cells. The lymphocyte B count was normal. Normal concentrations of serum IgM and IgG immunoglobulins as well as decreased concentrations of IgA were found. The total hemolytic activity of the classical complement pathway declined. No alteration was found in the opsonocytophagic function. The diagnosis was associated combined immunodeficiency, which proved the heterogeneity of the clinical expression of Edwards' syndrome and the relationship between the chromosomal defect and the formation of immune system i
%K s¨ªndrome de Edwards
%K trisom¨ªa 18
%K inmunodeficiencia
%K Edwards' syndrome
%K trisomy 18
%K immunodeficiency
%U http://scielo.sld.cu/scielo.php?script=sci_arttext&pid=S0864-02892011000300010