title: Identification of a CD40L gene mutation and genetic counselling in a family with immunodeficiency with hyperimmunoglobulinemia M.
abstract: A 13-year-old boy with immunodeficiency with hyper-IgM was analyzed for mutations in the CD40L gene. An insertional mutation of an extra T in a run of four T's was found in the second exon of the gene, leading to a premature translation stop. Genetic counselling of the family was performed, based on mutation detection by PCR/oligohybridization.
authors.affiliation: Department of Immunohaematology, University Hospital Leiden, The Netherlands.
authors.forename: M E
authors.initials: ME
authors.lastname: Kraakman
authors.forename: M
authors.initials: M
authors.lastname: de Weers
authors.forename: T
authors.initials: T
authors.lastname: Español
authors.forename: R K
authors.initials: RK
authors.lastname: Schuurman
authors.forename: R W
authors.initials: RW
authors.lastname: Hendriks
mesh_terms: D000293:Adolescent; D001483:Base Sequence; D019013:CD40 Antigens; D023201:CD40 Ligand; D004247:DNA; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D006942:Hypergammaglobulinemia / Q000150:complications / Q000235:genetics*; D007075:Immunoglobulin M; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000235:genetics*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016254:Mutagenesis, Insertional; D016366:Open Reading Frames; D010375:Pedigree; D014960:X Chromosome
chemical_list: D019013:CD40 Antigens; D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand; D004247:DNA