title: Molecular basis for human immunodeficiencies.
abstract: Major emphasis is currently being placed on unraveling the molecular basis of various forms of primary human immunodeficiencies. It is clear from recent studies that not only can different mutations give rise to different phenotypes but the same mutation may result in quite diverse clinical pictures. A correct diagnosis at the DNA level therefore becomes increasingly important in view of the possibility of gene therapy.
authors.affiliation: Department of Clinical Immunology, Karolinska Institute at Huddinge Hospital, Sweden.
authors.forename: L
authors.initials: L
authors.lastname: Hammarström
authors.forename: M
authors.initials: M
authors.lastname: Gillner
authors.forename: C I
authors.initials: CI
authors.lastname: Smith
mesh_terms: D000361:Agammaglobulinemia / Q000235:genetics; D015703:Antigens, CD / Q000235:genetics; D000944:Antigens, Differentiation, B-Lymphocyte / Q000235:genetics; D019013:CD40 Antigens; D017074:Common Variable Immunodeficiency / Q000235:genetics; D003165:Complement System Proteins / Q000172:deficiency; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics; D017098:IgA Deficiency / Q000235:genetics; D007075:Immunoglobulin M / Q000235:genetics; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D008967:Molecular Biology; D009154:Mutation; D016511:Severe Combined Immunodeficiency / Q000235:genetics; D013601:T-Lymphocytes; D014960:X Chromosome
chemical_list: D015703:Antigens, CD; D000944:Antigens, Differentiation, B-Lymphocyte; D019013:CD40 Antigens; D007075:Immunoglobulin M; D003165:Complement System Proteins