Immunodeficienze primitive 1991: nuove applicazioni e prospettive del consiglio genetico.

Translated title of the contribution: Primary immunodeficiency 1991: new uses and prospects of genetic counseling

L. D. Notarangelo, O. Parolini, M. Lusardi, E. Mazzolari, A. G. Ugazio

Research output: Contribution to journalArticle


In the last fifteen years, therapeutic use of intravenous immunoglobulin on one hand, and of bone marrow transplantation on the other, have largely modified survival rate and prognosis for many primary immunodeficiency diseases. At the same time, major advances in molecular genetics have allowed mapping of several immunodeficiency genes and made prenatal diagnosis feasible. Furthermore, for many X-linked immunodeficiencies, carrier detection can be also accomplished by means of analysis of the pattern of X-chromosome inactivation. As a whole, these techniques have substantially contributed to a more accurate genetic counseling in the families.

Original languageItalian
Pages (from-to)129-133
Number of pages5
JournalPediatria Medica e Chirurgica
Issue number2
Publication statusPublished - Mar 1991


ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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