Immunodeficienze congenite gravi: Dalla diagnosi al trattamento

This article describes the main congenital immunodeficiences with the purpose to help pediatricians to reach an early diagnosis. Observation of recurrent infections, especially if determinated by opportunistic agents, and familiar anamnesis are very important. Suspects must be confirmed by common exams and in case of positive results by second level exams in specialists centers where is possible to program therapeutic interventions. Prognosis is variable but often hemopoietic staminal cells transplantation is an opportunity of healing. An interesting alternative is the gene therapy but actually it's made only for SCID Therapy.