title: The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
authors.forename: E
authors.initials: E
authors.lastname: de Vries
authors.forename: J G
authors.initials: JG
authors.lastname: Noordzij
authors.forename: E G
authors.initials: EG
authors.lastname: Davies
authors.forename: N
authors.initials: N
authors.lastname: Hartwig
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
authors.forename: J J
authors.initials: JJ
authors.lastname: van Dongen
authors.forename: M J
authors.initials: MJ
authors.lastname: van Tol
mesh_terms: D000328:Adult; D023201:CD40 Ligand; D002648:Child; D002675:Child, Preschool; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D006942:Hypergammaglobulinemia / Q000235:genetics*; D007075:Immunoglobulin M / Q000276:immunology*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D014960:X Chromosome
chemical_list: D007075:Immunoglobulin M; D008562:Membrane Glycoproteins; D023201:CD40 Ligand