title: [Immunology in the medical practice. XXXIII. Hereditary immune deficiencies: from genotype to phenotype].
abstract: The advances of molecular biological techniques of the last decade have made possible identification of a rapidly increasing number of congenital (or primary) immune deficiencies at the genetic level. As soon as an immune deficiency is becoming a likely conclusion from a series of diagnostic laboratory tests, these recent developments in molecular techniques allow us in principle to make a conclusive diagnosis on the basis of a well-defined genetic defect. The hereditary immune deficiencies can be divided in 4 groups according to the functional immune aberration: antigen recognition, communication between immune cells, adhesion and directional motility, and killing as an effector mechanism.
authors.affiliation: Emma Kinderziekenhuis/Academisch Medisch Centrum, Meibergdreef, Amsterdam.
authors.forename: T W
authors.initials: TW
authors.lastname: Kuijpers
authors.forename: J M
authors.initials: JM
authors.lastname: Vossen
mesh_terms: D001327:Autoimmune Diseases / Q000235:genetics* / Q000276:immunology; D015870:Gene Expression / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000151:congenital / Q000235:genetics* / Q000276:immunology; D010641:Phenotype