Hernández-Blas MG, Orozco-Martínez S, Contreras-Verduzco A, Medina-Torres EA, Espinosa-Padilla S

Idioma: Español
Referencias bibliográficas: 25
Paginas: 20-26
Archivo PDF: 219.17 Kb.

RESUMEN

La inmunodeficiencia combinada grave comprende un grupo de enfermedades con defectos genéticos que involucra a la inmunidad celular y humoral. Esto origina una gran deficiencia de la función inmune que lleva a infecciones recurrentes y generalmente fatales en los primeros meses de vida, a menos que el sistema inmune sea reconstituido. Los niños con inmunodeficiencia combinada grave al nacimiento lucen sanos. Las manifestaciones clínicas inician en los primeros meses de vida con diarrea crónica, neumonía intersticial, candidiasis persistente o recurrente y detención de peso y talla. Las infecciones generalmente son con patógenos oportunistas e intracelulares (especialmente Pneumocystis jiroveci), virus, bacterias y hongos. La linfopenia es generalmente un marcador de laboratorio de esta inmunodeficiencia. El trasplante de células progenitoras hematopoyéticas pluripotenciales ha modificado la sobrevida de estos pacientes, con una sobrevida del 97% para aquellos pacientes trasplantados antes de los 3.5 meses, y de 69% para aquellos trasplantados después de este tiempo. La terapia génica es otra opción terapéutica que tiene resultados prometedores.

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