title: [New hereditary immunodeficiencies and genetic predisposition to infective diseases in children].
abstract: Since 10 years severe pediatric infections which were idiopathic have now molecular explanation, because new primary immunodeficiencies responsible of these severe infections were identified. These children presented a new kind of hereditary immunodeficiency with severe and/or recurrent infections caused by only one microorganisms family, in opposition to other patients with "classic" primary immunodeficiency. Standard immunologic explorations for example white blood counts, lymphocyte counts, vaccine serology, immunoglobulin levels and complement were normal. However, these children presented a vulnerability, sometimes lethal, caused by one type of microorganism. The aim of this review is to describe 3 new syndromes with a genetic predisposition of infectious diseases: IL-12-IFN gamma axis deficiency (Mendelian susceptibility to mycobacterial disease), STAT1 deficiency (predisposition to viral disease) and NEMO and IRAK-4 deficiencies (predisposition to infections caused by pyogenic bacteria).
authors.affiliation: Unité d'immunologie hématologie pédiatrique, hôpital Necker-Enfants Malades AP-HP, Laboratoire de génétique humaine des maladies infectieuses, université René-Descartes, Inserm U550, Faculté de médecine Necker, 75015 Paris, France.
authors.forename: C
authors.initials: C
authors.lastname: Picard
authors.forename: J L
authors.initials: JL
authors.lastname: Casanova
mesh_terms: D002648:Child; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007239:Infections / Q000235:genetics*