title: [Primary immunodeficiency 1991: new uses and prospects of genetic counseling].
abstract: 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.
authors.affiliation: Clinica Pediatrica ed Istituto di Chimica, Università degli Studi di Brescia, Italia.
authors.forename: L D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: O
authors.initials: O
authors.lastname: Parolini
authors.forename: M
authors.initials: M
authors.lastname: Lusardi
authors.forename: E
authors.initials: E
authors.lastname: Mazzolari
authors.forename: A G
authors.initials: AG
authors.lastname: Ugazio
mesh_terms: D000328:Adult; D016026:Bone Marrow Transplantation; D005260:Female; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007136:Immunoglobulins / Q000008:administration & dosage; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000517:prevention & control / Q000628:therapy*; D007231:Infant, Newborn; D007262:Infusions, Intravenous; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D007136:Immunoglobulins
vernacular_title: Immunodeficienze primitive 1991: nuove applicazioni e prospettive del consiglio genetico.