title: Immunogenetics: changing the face of immunodeficiency.
abstract: Tables 1 and 2 highlight the enormous advances that have been made in the definition of the molecular defects underlying primary immunodeficiencies in the past decade. The identification of SAP as the gene defective in XLP now completes the molecular bases of all the recognised X linked syndromes. Of the autosomally inherited syndromes, only the genes for DiGeorge syndrome, hyper-IgE, and perhaps most importantly, common variable immunodeficiency remain to be elucidated. The major clinical benefits of this information have primarily been in offering more accurate and rapid molecular diagnoses. The ability to make a molecular diagnosis also increases the options for earlier definitive treatments such as bone marrow transplantation and somatic gene therapy. Finally, as illustrated by the studies on the functions of WASP and the gamma c/JAK-3 pathway, identification of the gene defect is the first step to understanding the molecular pathogenesis of the immunological abnormalities.
authors.affiliation: Department of Immunology, Great Ormond Street Hospital NHS Trust, London, UK. Alison.Jones@gosh-tr.nthames.nhs.uk
authors.forename: A M
authors.initials: AM
authors.lastname: Jones
authors.forename: H B
authors.initials: HB
authors.lastname: Gaspar
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics*; D023201:CD40 Ligand; D004406:Dysgammaglobulinemia / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007125:Immunogenetics; D007075:Immunoglobulin M / Q000235:genetics; D053616:Janus Kinase 3; D008232:Lymphoproliferative Disorders / Q000235:genetics*; D008562:Membrane Glycoproteins / Q000172:deficiency; D011505:Protein-Tyrosine Kinases / Q000172:deficiency; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D014960:X Chromosome
chemical_list: D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand; D011505:Protein-Tyrosine Kinases; C507933:JAK3 protein, human; D053616:Janus Kinase 3