Revista Cubana de Hematología, Inmunología y Hemoterapia
versão ISSN 0864-0289
MARSAN SUAREZ, Vianed et al. Edwards' syndrome associated to combined immunodeficiency. Rev Cubana Hematol Inmunol Hemoter [online]. 2011, vol.27, n.3, pp. 342-348. ISSN 0864-0289.
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 in the intrauterine period.
Palavras-chave : Edwards' syndrome; trisomy 18; immunodeficiency.