title: Primary immunodeficiency diseases: an update.
abstract: Although relatively rare, primary immune deficiency diseases (PIDs) provide an excellent window into the functioning of the immune system. In the late 1960s, observations on these diseases, with their associated infections and genetics, bisected the immune system into humoral immunity and cell-mediated immunity. These diseases also represent a challenge in their diagnosis and treatment. Beginning in 1970, a unified nomenclature for the then-known primary immunodeficiency diseases was created by a committee convened by the World Health Organization. Since then, and later under the aegis of the International Union of Immunological Societies, an international committee of experts has met every 2 to 3 years to update the classification of PIDs. During the past 15 years, the molecular basis of more than 100 PIDs has been elucidated. This update results from the latest meeting of this committee in Sintra, Portugal, June 2003, which followed 2(1/2) days of scientific discussions.
authors.affiliation: Department of Pediatrics, University of Brescia Spedali Civili, Brescia, Italy.
authors.forename: Luigi
authors.initials: L
authors.lastname: Notarangelo
authors.forename: Jean-Laurent
authors.initials: JL
authors.lastname: Casanova
authors.forename: Alain
authors.initials: A
authors.lastname: Fischer
authors.forename: Jennifer
authors.initials: J
authors.lastname: Puck
authors.forename: Fred
authors.initials: F
authors.lastname: Rosen
authors.forename: Reinhard
authors.initials: R
authors.lastname: Seger
authors.forename: Raif
authors.initials: R
authors.lastname: Geha
mesh_terms: D000818:Animals; D000917:Antibody Formation / Q000235:genetics*; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006801:Humans; D007111:Immunity, Cellular / Q000235:genetics*; D007113:Immunity, Innate; D007153:Immunologic Deficiency Syndromes / Q000145:classification* / Q000235:genetics; D007391:International Cooperation; D051379:Mice; D018345:Mice, Knockout; D009154:Mutation; D012958:Societies, Scientific